Albergaria, Vinicius Estanislau

Hospital morbidity from nervous system diseases in the pediatric population in the Brazilian health system

Albergaria, Vinícius Estanislau

Leprosy in the pediatric population from Brazil: notifications from 2010 to 2019

Central nervous system histoplasmosis in an immunocompetent 5-year-old patient: a case report

Epidemiology of acute flaccid paralysis and vaccination coverage in the pediatric population of Rio Grande do Sul State, Brazil: an analysis from 2010 to 2019

Alberti, Raquel

CBD-rich Cannabis Sativa on core and comorbid symptoms of autism spectrum disorder: a prospective observational study

Albuquerque, José Marcos Vieira

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

Albuquerque, Marco Antonio Veloso

Gomez Lopez Hernadez syndrome: a case report

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Early recognition of Duchenne muscular dystrophy: where could we improve?

Long term use of deflazacort or prednisolone in patients with Duchenne muscular dystrophy: experience at a large Brazilian center

Treatment with Ataluren in seven brazilian boys with Duchenne muscular dystrofhy (DMD) caused by nonsense mutation: real-world experience

Albuquerque, Regina

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Almeida, Ana Elisa Ribeiro de Faria

Case report: pontocerebellar hypoplasia type 1D

Almeida, Marcela Lopes

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Alverne, Raffaela Neves Mont'

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Alves, Desirée Louise Procopio

SMA type I - report of the evolution of a patient with treatment

Alves, Hellen Kássia De Lima

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Alves, Monique Medeiros de Moura Barreto

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Alves, Renata Cristine

Epileptic encephalopatis: is it avoidable?

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Amaral, Maria Eduarda Souza

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Amorim, Priscila Zabala

Childhood encephalitis: a challenging diagnosis

Anibal, Aline Rocha

Early-onset hereditary spastic paraplegia: case report

New mutation in SCN8A gene associated severe developmental and epileptic encephalopathy type 13: the importance of genetic test and genotype-phenotype correlation

Anjos, Gabriela Oliveira

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Antonio, Fernanda Ferrão

Infantile neuroaxonal dystrophy (INAD): a case report

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Antônio, Fernanda Ferrao

Fowler syndrome: a case report

Antônio, Fernanda Ferrão

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Antoniuk, Sergio Antonio

Central nervous system juvenile xantogranuloma: a case report

Antoniuk, Sérgio Antonio

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

The first unprovoked seizure in children from a reference tertiary care center in Paraná, Brazil

Antoniuk, Sérgio Antônio

Study of factors associated with the level of autism spectrum disorder in a clinical sample

Case report: hyperkinetic movement disorder in a patient with heterozygous mutation in the GNAO1 gene

Aragão, Marcelo de Melo

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Aragão, Marcelo Melo

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Araujo, Rafaela Sorpile

Application of a questionnaire for screening anxiety disorder in adolescents

Argentino, Ana Claudia de Araujo

Application of a questionnaire for screening anxiety disorder in adolescents

Argentino, Ana Cláudia de Araújo

Screening for psychosocial and emotional problems on children with atopic dermatitis

Arruda, Raquel Paiva

Case report: pontocerebellar hypoplasia type 1D

Arruda, Rodrigo Santana

Case report: central nervous system vasculitis due to COVID-19

Central nervous system complications secondary to rhinosinusitis: a case report

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Artigalás, Osvaldo

Lafora disease and metformin therapy: a case report

Artilheiro, Mariana Cunha

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Hypoglycemia in patients with LAMA2-CMD

Assahide, Leticia Sayuri Kinoshita

Severe case of myotonic dystrophy type 1 associated with syringomyelia

Assahide, Marina Hideko Kinoshita

Severe case of myotonic dystrophy type 1 associated with syringomyelia

Ataíde, Meire Soares

Pigmentary incontinence (or Bloch-Sulzberger syndrome): a case report in a female infant with epilepsy

Auersvald, Elisabete Coelho

Pearson's syndrome: a case report

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

4H leucodystrophy phenotypical variation among two brothers: a case report

Auerswald, Elisabete Coelho Coelho

Encephalomyelitis by adenovirus

Azevedo, Beatriz Vilela Morais de

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Azevedo, Filipe Souza

Pott puffy tumor: a rare case of secondary headache

Azevedo, Maria Lina Giacomino de Almeida Passos e

SMA type I - report of the evolution of a patient with treatment

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Bacheladenski, Eli Paula

Myoclonic-chorea in PURA syndrome

Baratta, Anna Carollina Eulalio Amorim

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Barbosa, André Vinicius Soares

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Use of carglumic acid in propionic acidemia: a case report

Barbosa, André Vinícius Soares

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Atypical presentation of opsoclonus-myoclonus-ataxia syndrome in a newborn: a case report

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Barbosa, Emanuele Fonseca

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Barbosa, Julia de Oliveira

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Barbosa, Júlia de Oliveira

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Barcelos, Yuri

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Barea, Liselotte Menke

Clinical case report: headache due to cerebrospinal fluid hypotension treated with caffeine

Barros, Bruna Bavaresco

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Barros, Mariane Cibelle Barreto da Silva

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Barros, Nicholas dos Santos

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Use of plasmapheresis in acquired demyelinating syndromes

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Barros, Nicholas Dos Santos

Canvan's disease: case report

Barros, Nicholas Santos

Gomez Lopez Hernadez syndrome: a case report

Barsam, Fabiana Jorge Bueno Galdino

Therapeutic hypothermia initiated after 6 hours of age and benefits in the treatment of hypoxic ischemic encephalopathy

Bastos, Isabel Cordeiro Cid

Aicardi syndrome: case report

Becker, Michele Michelin

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Guillain-Barre Syndrome: Case Series

Thrombolysis in pediatric acute ischemic stroke: two case reports

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Belisario, Marina

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Benevides, Maria Luiza

Infantile neuroaxonal dystrophy (INAD): a case report

Child neurology residency in Brazil: current scenario

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

Fowler syndrome: a case report

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Bermudez, Beatriz Elizabeth Bagatin Veleda

Quality of life in down syndrome in Brazil

Changes in the sleep latency time of adolescents seen at the hebiatria service of a tertiary hospital in Paraná state after confinement of the COVID-19 pandemic

Bernardi, Ana Clara

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Thrombolysis in pediatric acute ischemic stroke: two case reports

Bernichi, João Victor Polegato

Aromatic L-amino acids decarboxylase (AADC) deficiency: a case report

Bertollo, Camila Assis

West syndrome: the importance of early diagnosis

Bezerra, Daniela Fontes

The use of cannabidiol in refractory epilepsy

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

Bitencourt, Rafael Mariano

CBD-rich Cannabis Sativa on core and comorbid symptoms of autism spectrum disorder: a prospective observational study

Bittencourt, Paulo César Trevisol

CBD-rich Cannabis Sativa on core and comorbid symptoms of autism spectrum disorder: a prospective observational study

Bohnert, Liara

A case report of neonatal PURA syndrome

Changes in the sleep latency time of adolescents seen at the hebiatria service of a tertiary hospital in Paraná state after confinement of the COVID-19 pandemic

Bom, Ana Paula Kuczynski Pedro

Central nervous system juvenile xantogranuloma: a case report

Bonato, Giuseppe Dick

SCN2A mutation presenting with autism and epilepsy

Bonnemann, Carsten

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Borges, Érico Induzzi

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Borigato, Eliana Valverde Magro

Pharmacological management of chronic pain in children and adolescents with cerebral palsy and hip dislocation

Hip dislocation in children with congenital Zika virus syndrome

Bóscolo, Ana Paula Oliveira

Therapeutic hypothermia initiated after 6 hours of age and benefits in the treatment of hypoxic ischemic encephalopathy

Braga, Halisson Mesquita

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Branco, Débora Xavier

Aicardi syndrome: case report

Braun, Bruna Flegler

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Breinis, Paulo

Mutation in the TANGO2 gene in a pediatric patient

Tay-Sachs disease with atypical evolution: case report

Case report: pontocerebellar hypoplasia type 1D

Brito, Joemir

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Brito, Joemir Jabson da Conceição

Tourettism secondary to multiple sclerosis

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Brito, Joemir Jábson da Conceição

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Brito, Tarcízio

Child neurology residency in Brazil: current scenario

Brodacz, Glória Maria Wenzel

Childhood encephalitis: a challenging diagnosis

Bruck, Isac

Sleep disturbances in children with learning difficulties

Speech disorders in children with learning disabilities

Brunetto, Mariana

Menkes disease spectrum: a case report

Bubicz, João Victor Rodrigues

Menkes disease spectrum: a case report

Bueno, Alyssa Maria Rigon

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Bueno, Clarissa

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Gomez Lopez Hernadez syndrome: a case report

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Bueno, Jordana

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Bussmann, Ieda

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Cajado, Bryan da Silva Marques

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Cajado, Bryan Silva Marques

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Caldas, Carla Andrea Cardoso Tanuri

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Camargo, Melissa Paes

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

Camelo, Clara Gontijo

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Hypoglycemia in patients with LAMA2-CMD

Campi, Renan

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Campos, Thais Ferreira

Neurological characteristics of Zika virus embryopathy cases in Ceará

Caram, Mariana Reis

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Cardozo, Laís Faria Masulk

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

Carneiro, Ana Cristina Nascimento Dias

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Use of carglumic acid in propionic acidemia: a case report

Carneiro, Ana Luiza Almeida

COL4A1-related disorders: a case report

Neurodegenerative disease caused by the TRAPPC4 gene

Carneiro, Ana Luíza Almeida

Neurological disorder related to ATP1A3: importance of diagnosis

Carneiro, Fernando Nascimento Dias

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Use of carglumic acid in propionic acidemia: a case report

Carvalho, Fernanda Chaves Barcellos

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Carvalho, Julia Monteiro Barros Pereira

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Carvalho, Maria Durce Costa Gomes

Acute encephalopathy and brain abnormalities on magnetic resonance imaging during combination therapy with adrenocorticotropic hormone and vigabatrin for infantile spasms

Cas, Martina Estacia Da

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Casella, Beatriz Borba

Landau-Kleffner Syndrome: the challenges of its treatment

Casella, Erasmo

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Casella, Erasmo Barbante

Landau-Kleffner Syndrome: the challenges of its treatment

Castellano, Isabelle Salgado

Infantile neuroaxonal dystrophy (INAD): a case report

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

Fowler syndrome: a case report

Castralli, Heloísa Augusta

Infantile neuroaxonal dystrophy associated with seizures in a patient from a teaching hospital in southern Brazil: case report

Dandy Walker malformation variant associated with refractory seizures in a 6-month-old baby: case report

Septo-optic dysplasia plus: case report

Castro, Luis Claudio Gonçalves

Short, medium and long term pituitary neuroradiological follow-up in children and adolescents after traumatic brain injury

Cavalcante, Isadora Oliveira

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Cavalcante, Leticia Regia Lima

Reduced fidgety movements in child prenatally exposed to SARS-CoV-2: a case report

Cavassim, Gabriel de Lima

Menkes disease spectrum: a case report

Chaves, Keila Paula Pereira

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Checon, Natalia Josiele Cerqueira

Neuronal Ceroid Lipofuscinosis Type 2- Early Diagnosis Importance for Treatment Start with Cerpolinase Alfa: A Case Report

Septic thrombosis of the cavernous sinus secondary to meningitis: case report from a referral hospital in Espirito Santo

Posterior reversible encephalopathy syndrome (PRES) in pediatrics: 2 report cases and literature review

Chien, Yin-Hsiu

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Cintra, Rafael Guerra

Rare case of congenital myopathy associated with the FXR1 gene

Case report: pontocerebellar hypoplasia type 1D

Coan, Ana Carolina

Infantile neuroaxonal dystrophy (INAD): a case report

Child neurology residency in Brazil: current scenario

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

Fowler syndrome: a case report

Coats, Julie

Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

Coelho, Murilo Lopes

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Coimbra, Clarice Samião

Canvan's disease: case report

Coimbra, Clarice Semiao

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Gomez Lopez Hernadez syndrome: a case report

Coimbra, Clarice Semião

Use of plasmapheresis in acquired demyelinating syndromes

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Conceição, Joemir Jabson

Gomez Lopez Hernadez syndrome: a case report

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Cordeiro, Silvia Santiago

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Correa, Maria Vitória

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Correa, Mariana Almeida

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Côrrea, Maytza Mayndra

A case report of neonatal PURA syndrome

Correia, Elisa Pacheco Estima

Childhood encephalitis: a challenging diagnosis

Costa, Alessandra Augusta Barroso Penna e

COL4A1-related disorders: a case report

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Costa, Douglas Machado

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Costa, Lucas de Brito

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

West syndrome: the importance of early diagnosis

Costa, Marcela Camara Machado

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

Costa, Ursula Thome

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Cota, Ana Luiza de Rezende e

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Coutinho, Leo

Quality of life in down syndrome in Brazil

Crippa, Ana C.S.

Myoclonic-chorea in PURA syndrome

Crippa, Ana C. S.

Quality of life in down syndrome in Brazil

Crippa, Ana Chrystina

Sleep disturbances in children with learning difficulties

Speech disorders in children with learning disabilities

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

Crippa, Ana Chrystina de Souza

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Changes in the sleep latency time of adolescents seen at the hebiatria service of a tertiary hospital in Paraná state after confinement of the COVID-19 pandemic

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

A Brazilian ACTH therapy protocol for west syndrome in environmental treatment

The first unprovoked seizure in children from a reference tertiary care center in Paraná, Brazil

Crippa, Ana Chrystina Souza

A case report of neonatal PURA syndrome

Cristovam, Marcos Antonio da Silva

Application of a questionnaire for screening anxiety disorder in adolescents

Application of conners rating scale on school with underachievement academic

Application of pediatric symptoms checklist in students with academic underachievement

Application of SNAP-IV scale on children with academic underachievement

Screening for psychosocial and emotional problems on children with atopic dermatitis

Cruz, Cristiani Rocha Lima

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Use of plasmapheresis in acquired demyelinating syndromes

Gomez Lopez Hernadez syndrome: a case report

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Cruz, Patricia Pontes

Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses

Cruz, Patrícia Pontes

Early-onset hereditary spastic paraplegia: case report

New mutation in SCN8A gene associated severe developmental and epileptic encephalopathy type 13: the importance of genetic test and genotype-phenotype correlation

Central congenital hypotonia: what is the first genetic test of choice?

Cunha, Letícia Moreira

Central nervous system histoplasmosis in an immunocompetent 5-year-old patient: a case report

Cunha, Paulo Emídio Lobão

Callosotomy: should it be indicated earlier?

Cyrino, Lorena Raulik

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

da Conceição, Bruna Gularte

Infantile neuroaxonal dystrophy associated with seizures in a patient from a teaching hospital in southern Brazil: case report

Dandy Walker malformation variant associated with refractory seizures in a 6-month-old baby: case report

Septo-optic dysplasia plus: case report

da Costa, Douglas Machado

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

da Costa, Isabela Bartholomeu Ferreira

Central nervous system complications of pediatric sinusitis

Central nervous system complications secondary to rhinosinusitis: a case report

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

da Cunha, Paulo Emídio Lobão

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Danieli, Dayane

Anti-N-Methyl-D-Aspartate receptor encephalitis by prior epstein barr infection

Dantas, Jonas Gabriel Araripe

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Dantas, Mariana Sathler Pereira

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

SMA type I - report of the evolution of a patient with treatment

Dantas, Rafaela Fernandes

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Use of plasmapheresis in acquired demyelinating syndromes

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Canvan's disease: case report

da Paixão, Taynara Cristina

Application of SNAP-IV scale on children with academic underachievement

da Paz, José Albino

Use of plasmapheresis in acquired demyelinating syndromes

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

da Rosa, Elisandra Andreia

Steinert's myotonic dystrophy: a case report

da Silva, Adriana Gonçalves

Hip dislocation in children with congenital Zika virus syndrome

da Silva, Tatiane Morgana

SCN2A mutation presenting with autism and epilepsy

David, Nathalia Jamille Moreira Nascimento

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

David, Nathália Jamille Moreira Nascimento

Use of carglumic acid in propionic acidemia: a case report

de Almeida, Carla Skilhan

Cuevas Medek exercises a neurological rehabilitation for children, the effect in developmental hip dysplasia in a patient with cerebral palsy: case study

de Almeida, Guilsa Silva

Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses

de Almeida, Roberta Diniz

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Use of plasmapheresis in acquired demyelinating syndromes

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Canvan's disease: case report

De Almeida, Roberta Diniz

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

de Araujo, Guilherme Alves

Steinert's myotonic dystrophy: a case report

de Azeredo, Saulo Bueno

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

de Brum, Sara Julia Zorzi

Leprosy in the pediatric population from Brazil: notifications from 2010 to 2019

Hospital morbidity from nervous system diseases in the pediatric population in the Brazilian health system

Central nervous system histoplasmosis in an immunocompetent 5-year-old patient: a case report

Epidemiology of acute flaccid paralysis and vaccination coverage in the pediatric population of Rio Grande do Sul State, Brazil: an analysis from 2010 to 2019

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

de Carvalho, Melissa Dorneles

Screening for psychosocial and emotional problems on children with atopic dermatitis

de Carvalho, Melissa Dornelles

Application of SNAP-IV scale on children with academic underachievement

de Castro, Leonardo Mendonça Monteiro

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

de Faria, Ana Elisa Ribeiro

Rare case of congenital myopathy associated with the FXR1 gene

de Faria, Guilherme Ramos

West syndrome: the importance of early diagnosis

de Freitas, Marcela Rodriguez

Neurodegenerative disease caused by the TRAPPC4 gene

de Gois, Rosicleir Pereira

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

de Gois, Rosicler Pereira

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Neurological characteristics of Zika virus embryopathy cases in Ceará

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

de Holanda, Rodrigo Mendonça

Hypoglycemia in patients with LAMA2-CMD

de Lucena, Vanessa Limeira Pontes

Disseminated tuberculosis in a three month old infant: effects on the central nervous system

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

de Marsillac, Victoria Holcman

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

de Matos, Maiave Micaelle Figueiredo

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

de Matos, Maiave Micalle Figueiredo

Central nervous system complications of pediatric sinusitis

de Melo, Ana Claudia Marques Gouveia

Acute encephalopathy and brain abnormalities on magnetic resonance imaging during combination therapy with adrenocorticotropic hormone and vigabatrin for infantile spasms

de Melo, Isadora Cavalcante Olimpio

Tay-Sachs disease with atypical evolution: case report

de Melo, Isadora Cavalcante Olímpio

Mutation in the TANGO2 gene in a pediatric patient

Rare case of congenital myopathy associated with the FXR1 gene

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

de Melo, Laura Defensor Ribeiro

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Disseminated tuberculosis in a three month old infant: effects on the central nervous system

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives

De Melo, Isadora Cavalcante Olímpio

The use of cannabidiol in refractory epilepsy

de Mendonça, Renata Silva

Use of plasmapheresis in acquired demyelinating syndromes

Post-vaccination Guillain-Barre syndrome: a case report

Canvan's disease: case report

de Menezes, Vinícius Paulo Lima

Neurodevelopmental disorder with or without hyperkinetic movements and seizures: a rare genetic case

Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Callosotomy: should it be indicated earlier?

de Oliveira, Ana Beatriz Arruda Carvalho

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

de Oliveira, Carolina Sanches Alvim

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

de Oliveira, Giovana Pereira

Application of conners rating scale on school with underachievement academic

de Oliveira, Karina Lúcia Soares

Acute encephalopathy and brain abnormalities on magnetic resonance imaging during combination therapy with adrenocorticotropic hormone and vigabatrin for infantile spasms

de Oliveira, Letícia Valadares

Brain abscess in adolescent caused by complicated sinusitis: a case report

Neurodevelopmental disorder with involuntary movements associated with the wars2 Gene in infant: a case report

de Oliveira, Melissa Pereira

Neuronal Ceroid Lipofuscinosis Type 2- Early Diagnosis Importance for Treatment Start with Cerpolinase Alfa: A Case Report

Septic thrombosis of the cavernous sinus secondary to meningitis: case report from a referral hospital in Espirito Santo

de Oliveira, Micaelle Smaniotti

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

de Oliveira, Rafaela Pichini

Central nervous system complications secondary to rhinosinusitis: a case report

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

de Oliveira, Rebeca Eloíse

Application of SNAP-IV scale on children with academic underachievement

De Oliveira, Melissa Pereira

Posterior reversible encephalopathy syndrome (PRES) in pediatrics: 2 report cases and literature review

de Paiva, Amanda Povoa

Disseminated tuberculosis in a three month old infant: effects on the central nervous system

de Paiva, Amanda Póvoa

Central nervous system complications of pediatric sinusitis

de Paulo, Carolina Oliveira

Tay-Sachs disease without cherry-red spot: a case report

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Miller Fisher syndrome after COVID-19 vaccination: a case report

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

de Pereira, Ana Paula Almeida

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

de Quadros, Fernanda Silveira

Clinical case report: headache due to cerebrospinal fluid hypotension treated with caffeine

de Rezende, Thiago Junqueira Ribeiro

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Dertelmann, Eliezer Naudal

Steinert's myotonic dystrophy: a case report

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

de Santana, Joice Silva

Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses

de Sousa, Estela Cristina Giglio

Application of a questionnaire for screening anxiety disorder in adolescents

Screening for psychosocial and emotional problems on children with atopic dermatitis

de Sousa, João Victor Pereira

Application of a questionnaire for screening anxiety disorder in adolescents

Application of conners rating scale on school with underachievement academic

de Sousa, Jordana Dias Paes Possani

Recurrent infectious encephalitis in adolescent: a case report and its differential diagnoses

Dettmer, Débora

Acute disseminated encephalomyelitis (ADEM) in children: a case report

de Vasconcellos, Renata Jordão Pereira

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

de Vasconcelos, Monique Frank

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

West syndrome: the importance of early diagnosis

Devens, Leticia Bassani

SCN2A mutation presenting with autism and epilepsy

Dias, Bárbara Souza

Pigmentary incontinence (or Bloch-Sulzberger syndrome): a case report in a female infant with epilepsy

Dias, José Gilvan Gama de Jesus

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Dias, Raphael Condack Melo de Assis

Psychiatric manifestations in posterior reversible encephalopathy syndrome

Dias-Carneiro, Rafael Paternò Castello

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Diniz, Ana Carolina Cardoso

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Use of carglumic acid in propionic acidemia: a case report

Diniz, Sabrina Stephanie Lana

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Donida, Natalie da Silveira

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

dos Anjos, Alessandra Marques

Lafora disease and metformin therapy: a case report

dos Santos, Angela Nazari

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

dos Santos, Carolina Baptista

Central nervous system histoplasmosis in an immunocompetent 5-year-old patient: a case report

dos Santos, Flavia Nardes

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

SMA type I - report of the evolution of a patient with treatment

dos Santos, Kauê Magalhães Castro

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

dos Santos, Luísa Teixeira

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

dos Santos, Raimundo Maurício

Steinert's myotonic dystrophy: a case report

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Duarte, Lenamaris Mendes Rocha

Hip dislocation in children with congenital Zika virus syndrome

Durigan, Teodora Roballo

Severe case of myotonic dystrophy type 1 associated with syringomyelia

Molybdenum Cofactor Deficiency with Cerebral Atrophy

Dutra, Luís Paulo Ferreira de Souza

Case report: hyperkinetic movement disorder in a patient with heterozygous mutation in the GNAO1 gene

Elias, Paula Thais Bandeira

Infantile neuroaxonal dystrophy (INAD): a case report

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Elias, Paula Thaís Bandeira

Child neurology residency in Brazil: current scenario

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Fowler syndrome: a case report

Embiruçu, Emília Katiane

Early-onset hereditary spastic paraplegia: case report

New mutation in SCN8A gene associated severe developmental and epileptic encephalopathy type 13: the importance of genetic test and genotype-phenotype correlation

Central congenital hypotonia: what is the first genetic test of choice?

Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses

Estevam, Elis

Aicardi syndrome: case report

Eulalio, Mariane Wehmuth Furlan

Tay-Sachs disease without cherry-red spot: a case report

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Faganello, Isabela Bulhões

Application of SNAP-IV scale on children with academic underachievement

Fakler, Damaris Alcidia Gaester

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Falcão, Ana Carolina Piauilino

Infantile neuroaxonal dystrophy (INAD): a case report

Falcão, Ana Carolina Piauilino Santos

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Fowler syndrome: a case report

Falcão, Ana Carolina Piaulino

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Faria, Ana Paula Palheta

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Fassina, Gabriel Soccol

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Fatuch, Maria Vitória Ruiz

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Federhen, Andressa

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Fernandes, Jamile Nascimento Souza

Pott puffy tumor: a rare case of secondary headache

Fernandes, Regina Maria Franca

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Fernandes, Tatiana Ribeiro

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Fernandes, Thaís Siqueira

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

Ferraciolli, Suely Fazio

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Ferreira, Andreas Dreckmann

Cuevas Medek exercises a neurological rehabilitation for children, the effect in developmental hip dysplasia in a patient with cerebral palsy: case study

Ferreira, Andressa Farias Vilela

Brain abscess in adolescent caused by complicated sinusitis: a case report

Ferreira, Eduardo Vaz de Sousa

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Ferreira, Jessica Kayene Souza

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

SMA type I - report of the evolution of a patient with treatment

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Ferreira, Jéssica Kayene Souza

Pelizaeus-Merzbacher disease (PMD): case report

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Ferreira, Letícia Pugim

A case report of neonatal PURA syndrome

Changes in the sleep latency time of adolescents seen at the hebiatria service of a tertiary hospital in Paraná state after confinement of the COVID-19 pandemic

Ferreira, Lisiane Seguti

Neurodevelopmental disorder with or without hyperkinetic movements and seizures: a rare genetic case

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Callosotomy: should it be indicated earlier?

Ferreira, Roberta Mariuzzo

Acute cerebellar ataxia due to varicella zoster

Figur, Felipe Eberhart

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Filho, Antonio de Souza Andrade

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Filho, Jose Marcos Vieira Albuquerque

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Filho, José Marcos Vieira Albuquerque

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Filho, Otávio Rizzi Coelho

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Fillos, Letícia

Epileptic Encephalopathy due cyclin-dependent kinase type 5 (CDKL5) gene changes: a case report

Fiovaranti, Ana carolina Pecoraro

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

Foerster, Gustav Peter

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Fogolin, Ana Carolina Jorge

Mutation in the TANGO2 gene in a pediatric patient

Rare case of congenital myopathy associated with the FXR1 gene

The use of cannabidiol in refractory epilepsy

Tay-Sachs disease with atypical evolution: case report

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

Folchini, Caroline Mensor

Epidemiologic profile of pediatric patients with signs and symptoms of intracranial hypertension and monitoring of brain compliance using a non-invasive device in a referral pediatric hospital in Brazil

Case report: evaluation of intracranial compliance in a child with subdural empyema

Folgierini, Roberta

Getting to know the needs of caregivers of children and adolescents with epilepsy for the development of technological tool

Fonseca, Alulin Tácio Quadro Monteiro

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Fonseca, Alulin Tacio Quadros Monteiro

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Fonseca, Alulin Tácio Quadros Santos Monteiro

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Fonseca, Alullin Tácio Quadros Monteiro

Hypoglycemia in patients with LAMA2-CMD

Fonseca, Bruna Torres Homem

COL4A1-related disorders: a case report

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Fonseca, Jacqueline Harouche Rodrigues

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Fonseca, Luiz Fernando

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Fonseca, Sabrina Cavalcanti de Barros

Treatment of spinal muscular atrophy with onasemnogene abeparvovec: off-label case report and follow-up protocol proposal

Fonseca, Thais de Almeida Oliveira

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Fonseca, Thaís Moura Avelar

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Fontenele, Aline Campos

Neurological characteristics of Zika virus embryopathy cases in Ceará

Fontes, Hanid Gomes

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

Fragomeni, Manuela de Oliveira

Epidemiological profile of patients treated at the medical clinic for demyelinating diseases in a specialized pediatric hospital in Brasília, Brazil

Fraiman, Pedro Henrique de Almeida

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Franca, Marcondes Cavalcante

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

França, Daise Larissa Ribeiro

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

França, Marcondes Cavalcante

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

Franklin, Gustavo L.

Quality of life in down syndrome in Brazil

Myoclonic-chorea in PURA syndrome

Franklin, Gustavo Leite

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome

Freire, Ester Mara Rodrigues

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Freire, Petrus Davi Pinheiro

Case report: hyperkinetic movement disorder in a patient with heterozygous mutation in the GNAO1 gene

Freitas, Marcela Rodrigues

COL4A1-related disorders: a case report

Neurological disorder related to ATP1A3: importance of diagnosis

Funck, Elisa Victória Costa Caetano

Treatment of spinal muscular atrophy with onasemnogene abeparvovec: off-label case report and follow-up protocol proposal

Funk, Elisa Victoria Costa Caetano

Neuronal Ceroid Lipofuscinosis Type 2- Early Diagnosis Importance for Treatment Start with Cerpolinase Alfa: A Case Report

Septic thrombosis of the cavernous sinus secondary to meningitis: case report from a referral hospital in Espirito Santo

Posterior reversible encephalopathy syndrome (PRES) in pediatrics: 2 report cases and literature review

Furini, Guilherme

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Furini, Guilherme Cordaro Bucker

Central nervous system complications of pediatric sinusitis

Case report: central nervous system vasculitis due to COVID-19

Central nervous system complications secondary to rhinosinusitis: a case report

Fursgtenberger, Eduarda de Boer

Tay-Sachs disease without cherry-red spot: a case report

Furstenberger, Eduarda

Miller Fisher syndrome after COVID-19 vaccination: a case report

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Furstenberger, Eduarda de Boer

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Gabriel, Gleice Fernanda Costa Pinto

Application of a questionnaire for screening anxiety disorder in adolescents

Application of pediatric symptoms checklist in students with academic underachievement

Application of SNAP-IV scale on children with academic underachievement

Gaede, Guilherme Siqueira

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Gene therapy treatment in SMA with positive AAV9 antibodies

Description protocol used to monitor patients treated with gene therapy

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Galvão, Laís Fé Matos

Neuronal ceroid lipofuscinosis type 1: a case report

Gama, Rafaella Castro

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

West syndrome: the importance of early diagnosis

Garcia, João

Neurodevelopmental disorder with or without hyperkinetic movements and seizures: a rare genetic case

Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Callosotomy: should it be indicated earlier?

Garcia, Ketlyn Gil

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Gaspar, Danielle Macêdo

Reduced fidgety movements in child prenatally exposed to SARS-CoV-2: a case report

Gazola, Lia de Oliveira Rosa

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Geller, Thiele do Prado

Diagnostic process of patient with PANDAS syndrome: case report

Gemelli, Hisadora

Application of SNAP-IV scale on children with academic underachievement

Screening for psychosocial and emotional problems on children with atopic dermatitis

Gerzson, Laís Rodrigues

Cuevas Medek exercises a neurological rehabilitation for children, the effect in developmental hip dysplasia in a patient with cerebral palsy: case study

Getulino, Fabiana de Abreu

Leprosy in the pediatric population from Brazil: notifications from 2010 to 2019

Hospital morbidity from nervous system diseases in the pediatric population in the Brazilian health system

Epidemiology of acute flaccid paralysis and vaccination coverage in the pediatric population of Rio Grande do Sul State, Brazil: an analysis from 2010 to 2019

Gianetti, Juliana Gurgel

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Gikovate, Carla Gruber

Autism and sexuality: review and discussion

Families with children in the autism spectrum disorder: tracing difficulties and support strategies

Girotto, Paula Natale

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Góes, Fernanda Veiga

COL4A1-related disorders: a case report

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Gomes, Danuta Iatchuk

Tay-Sachs disease without cherry-red spot: a case report

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Miller Fisher syndrome after COVID-19 vaccination: a case report

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Gomes, Hanid Fontes

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Paroxysmal Kinesigenic Dyskinesia: when to Diagnose?

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Gomes, Jéssica de Moutta

The impact of nutriology on human neurodevelopment: an integrative literature review

Gomes, Paulyane Thalita Miranda

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Gomes, Renan Campi

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Gomes, Tainara Carfane

Pediatric multiple sclerosis post covid: a case report

Goncalves, Alicia Carolina Coraspe

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Gonçalves, Alicia Carolina Coraspe

Case report: central nervous system vasculitis due to COVID-19

Gonçalves, Arthur Carvalhal

Animal-assisted therapy in the process of physical and mental rehabilitation of patients with disabilities

The impact of nutriology on human neurodevelopment: an integrative literature review

Gonçalves, Sandra Ramos

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Good, Gabrielle Gruppelli

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Gouvêa, Michelle Basso Couto

Mutation in the TANGO2 gene in a pediatric patient

The use of cannabidiol in refractory epilepsy

Tay-Sachs disease with atypical evolution: case report

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

Gouveia, Amanda Fontana

Application of a questionnaire for screening anxiety disorder in adolescents

Gouveia, Michelle Basso Couto

Rare case of congenital myopathy associated with the FXR1 gene

Graça, Felipe Franco

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Graff, Guilherme

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Grandi, Valéria Tessaro

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Grossklauss, Luis Fernando

Safety and efficacy of gene therapy for patients with spinal muscular atrophy: a real-life study in a Brazilian cohort

Guadagnin, Maria Fernanda

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Guanais, Luan

Early-onset hereditary spastic paraplegia: case report

Central congenital hypotonia: what is the first genetic test of choice?

Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses

Guedes, Jennyfer Katheryne Klein Ottoni

Myoclonic status epilepticus in a pediatric patient: case report

Guedes, Sthefanny Josephine Klein Otoni

Application of pediatric symptoms checklist in students with academic underachievement

Guedes, Sthefanny Josephine Klein Ottoni

Application of conners rating scale on school with underachievement academic

Myoclonic status epilepticus in a pediatric patient: case report

Gugelmin, Lucas Procopiak

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Guimarães, Lucinda Calheiros Guimarães Calheiros

Pigmentary incontinence (or Bloch-Sulzberger syndrome): a case report in a female infant with epilepsy

Guimarães, Victória Bernardes

Childhood encephalitis: a challenging diagnosis

Guimarães, Yanna Silva

Acute cerebellar ataxia due to varicella zoster

Gurgel-Giannetti, Juliana

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Hadaya, Jamile Bonini

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

Hamad, Ana Paula Andrade

Central nervous system complications of pediatric sinusitis

Case report: central nervous system vasculitis due to COVID-19

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Central nervous system complications secondary to rhinosinusitis: a case report

Disseminated tuberculosis in a three month old infant: effects on the central nervous system

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives

Hammoud, Shema El-Laden

Menkes disease spectrum: a case report

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Han, Cong

Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

Hatae, Camila Yoko Martins

Epileptic encephalopatis: is it avoidable?

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Hayahi, Daniel Shoji

Gomez Lopez Hernadez syndrome: a case report

Hayashi, Daniel Shoji

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Canvan's disease: case report

Henriques-Souza, Adélia Maria Miranda

Insular cortex epilepsy in Rasmussen Syndrome: a case report

Hernandes, Fernanda Bortolanza

Application of conners rating scale on school with underachievement academic

Application of pediatric symptoms checklist in students with academic underachievement

Screening for psychosocial and emotional problems on children with atopic dermatitis

Hishinuma, Gilberto

Pediatric multiple sclerosis post covid: a case report

Horácio, Hugo Leonardo Justo

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Guillain-Barre Syndrome: Case Series

Thrombolysis in pediatric acute ischemic stroke: two case reports

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Horta, Vanessa Ferreira

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Huard, Eliane Cespedes Paes

Short, medium and long term pituitary neuroradiological follow-up in children and adolescents after traumatic brain injury

Atrial myxoma's embolization and stroke causing aphasia in a bilingual (Persian and Portuguese) Iranian girl: a case report

Diffusion tensor tractography, motor, cognitive and behavior scales in a rehabilitation outcome following a pediatric traumatic brain injury: a case report

Hwu, Paul Wuh-Liang

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Imaizumi, Vanessa Akemi

Case report: pontocerebellar hypoplasia type 1D

Imamura, Erica Ueno

Pharmacological management of chronic pain in children and adolescents with cerebral palsy and hip dislocation

Iwabe, Cristina

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Jacob, Camila Garcia Ferrari

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Jacomasso, Jessica Moraes

Menkes disease spectrum: a case report

Jácome, Lívia Uliana

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Jorge, Felipe Arthur Almeida

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Jorge, Felipe Arthur de Almeida

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Jr, Ciro Matsui

Safety and efficacy of gene therapy for patients with spinal muscular atrophy: a real-life study in a Brazilian cohort

Long-term follow-up of SMA type 1 treatment with Nusinersen: a single-center experience

Junior, Marcondes Cavalcante França

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Junior, Orlando Oliveira Silva

Pigmentary incontinence (or Bloch-Sulzberger syndrome): a case report in a female infant with epilepsy

Junior, Rui

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Junior, Rui Carlos Silva

Mitochondrial disorder related to the AFG3L2 gene in a boy with neurodevelopmental delay, ataxia and refractory epilepsy

Neurodevelopmental disorder related to the GABRB2 gene as a differential diagnosis of angelman syndrome: case report

Nemaline myopathy with severe congenital manifestation

Encephalomyelitis by adenovirus

Follow-up younger patient with anti-NMDA-R encephalitis

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Junior, Victor Horácio de Souza Costa

Central nervous system juvenile xantogranuloma: a case report

Júnior, Marcondes Cavalcante França

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Júnior, Nildo Vilacorte de Araújo

Nemaline myopathy with severe congenital manifestation

Encephalomyelitis by adenovirus

Júnior, Rui Carlos Silva

Menkes disease spectrum: a case report

Pearson's syndrome: a case report

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

4H leucodystrophy phenotypical variation among two brothers: a case report

Kalil, Felipe Neto

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Kalsing, Raissa

Getting to know the needs of caregivers of children and adolescents with epilepsy for the development of technological tool

Karuta, Simone Carreiro Vieira

Epidemiologic profile of pediatric patients with signs and symptoms of intracranial hypertension and monitoring of brain compliance using a non-invasive device in a referral pediatric hospital in Brazil

Case report: evaluation of intracranial compliance in a child with subdural empyema

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Kehdi, Renata Castro

Reduced fidgety movements in child prenatally exposed to SARS-CoV-2: a case report

Kirk, Kennedy

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

Kock, Kelser de Souza

CBD-rich Cannabis Sativa on core and comorbid symptoms of autism spectrum disorder: a prospective observational study

Kok, Fernando

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Canvan's disease: case report

Koliski, Adriana

Myoclonic status epilepticus in a pediatric patient: case report

Kormann, Maria Augusta

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

Krauzer, João Ronaldo Mafalda

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Lafora disease and metformin therapy: a case report

Kula, Guilherme Fernandes

Application of conners rating scale on school with underachievement academic

Kumer, Tatiana Von Hertwig F.O.

Epileptic encephalopatis: is it avoidable?

Kumer, Tatiana Von Hertwig Fernandes de Olveira

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Kuntz, Nancy

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

Kunz, Ana Clara

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Lacle, Jose Antonio Coba

Miller Fisher syndrome after COVID-19 vaccination: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Lacle, José Antonio Coba

Tay-Sachs disease without cherry-red spot: a case report

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

Lacle, José Antônio Coba

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Lana, Marcos Vinicius Dalla

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Lazzarotto, Verônica Camila

Aicardi syndrome: case report

Leandro, Danieli Mayumi Kimura

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

Leão, Ana Cristina Azevedo

Mitochondrial disease in a heteroplasmic MT DNA mutation causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and leigh syndrome phenotypes

Use of plasmapheresis in acquired demyelinating syndromes

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Canvan's disease: case report

Lee, Ni-Chung

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Leite, Ana Paula Dassie

Sleep disturbances in children with learning difficulties

Speech disorders in children with learning disabilities

Leoni, Tauana Bernardes

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Leprevost, Carlos Magno

The use of artificial intelligence tools in the elucidation of cases of neurodevelopmental disorders

Case series: array CGH as a tier 1 testing in diverse neurodevelopmental disorders evaluation

Lima, Aline Fonseca

COL4A1-related disorders: a case report

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Lima, Karla Daniele

Early recognition of Duchenne muscular dystrophy: where could we improve?

Lima, Karlla Daniele

Long term use of deflazacort or prednisolone in patients with Duchenne muscular dystrophy: experience at a large Brazilian center

Lima, Karlla Daniele Ferreira

Treatment with Ataluren in seven brazilian boys with Duchenne muscular dystrofhy (DMD) caused by nonsense mutation: real-world experience

Lima, Oton Naziasene

Hip dislocation in children with congenital Zika virus syndrome

Lima, Oton Naziazene

Pharmacological management of chronic pain in children and adolescents with cerebral palsy and hip dislocation

Lima, Vinicius Alves

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Litça, Patricia do Rocio

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

Litça, Patrícia do Rocio

The first unprovoked seizure in children from a reference tertiary care center in Paraná, Brazil

Liz, Alysson Madruga

CBD-rich Cannabis Sativa on core and comorbid symptoms of autism spectrum disorder: a prospective observational study

Llaguno, Nathalie Sales

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Lohr, Alfredo

Encephalomyelitis by adenovirus

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Lopes, Alessandra Andrade

Epidemiological profile of patients treated at the medical clinic for demyelinating diseases in a specialized pediatric hospital in Brasília, Brazil

West syndrome associated with hypoxic brain injury caused by intoxication: a case report

Lopes, Ana Carolina Andrade

Epidemiological profile of patients treated at the medical clinic for demyelinating diseases in a specialized pediatric hospital in Brasília, Brazil

West syndrome associated with hypoxic brain injury caused by intoxication: a case report

Lopes, Gislaine Bacarin

Cuevas Medek exercises a neurological rehabilitation for children, the effect in developmental hip dysplasia in a patient with cerebral palsy: case study

Lopes, Icaro Bertechini Soler

Neurodevelopmental disorder associated with the DOCK7 gene

Lopes, Isadora Cristina Barbosa

Tay-Sachs disease without cherry-red spot: a case report

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Miller Fisher syndrome after COVID-19 vaccination: a case report

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Lopes, Nadia Bertechini Soler

Neurodevelopmental disorder associated with the DOCK7 gene

Lopes, Patricia Gomes de Almeida

Epileptic Encephalopathy due cyclin-dependent kinase type 5 (CDKL5) gene changes: a case report

Lopes, Stéphany Lara Pereira

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Lorea, Claudia Fernandes

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Lorea, Cláudia Fernandes

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Lós, Deniele Bezerra

Reduced fidgety movements in child prenatally exposed to SARS-CoV-2: a case report

Comparison between epilepsy hospitalization of Brazilian adult and pediatric patients in Brazil during the last decade

Lourenço, Charles Marques

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Loutfi, Karina Soares

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Lucas, Elizabeth Lemos Silveira

Safety and efficacy of gene therapy for patients with spinal muscular atrophy: a real-life study in a Brazilian cohort

Lucas, Sabrina Aparecida Prado

Treatment of spinal muscular atrophy with onasemnogene abeparvovec: off-label case report and follow-up protocol proposal

Lucato, Leandro Tavares

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Luiz, Ana Paula Lopes

Sleep disturbances in children with learning difficulties

Speech disorders in children with learning disabilities

Lunelli, Jackson Pagno

Steinert's myotonic dystrophy: a case report

Lyrio, Larissa Maria Soares

Case report: pontocerebellar hypoplasia type 1D

Machado, Marcela Gonçalves de Souza

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

Maeda, Adriano Keijiro

Epidemiologic profile of pediatric patients with signs and symptoms of intracranial hypertension and monitoring of brain compliance using a non-invasive device in a referral pediatric hospital in Brazil

Case report: evaluation of intracranial compliance in a child with subdural empyema

Maeda, Adriano Kejiro

Central nervous system juvenile xantogranuloma: a case report

Magalhaes, Felipe Barbosa

Motor unit number estimation in patients with spinal muscular atrophy using the CMAP scan technique

Magalhães, Juliana Silva Almeida

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

Magalhães, Lara Cordeiro

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

Magalhães, Luiza Vieira da Silva

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Magalhães, Mauricio

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Maglioni, Rie Tiba

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Maia, Julia Carvalho

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Maia, Juliana Costa

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Maldonado, Maria Fernanda Jara

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Malucelli, Edilici Ribeiro dos Santos

Case report: hyperkinetic movement disorder in a patient with heterozygous mutation in the GNAO1 gene

Manços, Guilherme de Rosso

Epidemiologic profile of pediatric patients with signs and symptoms of intracranial hypertension and monitoring of brain compliance using a non-invasive device in a referral pediatric hospital in Brazil

Case report: evaluation of intracranial compliance in a child with subdural empyema

Manreza, Maria Luiza Giraldes

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Maranhão, Caroline Corrêa

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Marcantonio, Silvana Palmeiro

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Marcantônio, Silvana Palmeiro

Lafora disease and metformin therapy: a case report

Marchetti, Mateus Pinto

Epileptic encephalopatis: is it avoidable?

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Marcolin, Patrícia

Steinert's myotonic dystrophy: a case report

Mariano, Dayana de Lima

Guillain-Barre Syndrome: Case Series

Adenovirus encephalitis associated with acute hepatitis: case report

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Mariano, Dayana Lima

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Mariano, Tamiris Carneiro

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Neurological characteristics of Zika virus embryopathy cases in Ceará

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil

Marques, Izabela Cristina

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Marques, Izabela Cristina Macedo

Nemaline myopathy with severe congenital manifestation

Encephalomyelitis by adenovirus

Follow-up younger patient with anti-NMDA-R encephalitis

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Gene therapy treatment in SMA with positive AAV9 antibodies

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Description protocol used to monitor patients treated with gene therapy

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Molybdenum Cofactor Deficiency with Cerebral Atrophy

4H leucodystrophy phenotypical variation among two brothers: a case report

Marques, Luísa de Assis

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

West syndrome: the importance of early diagnosis

Marquez, Sayonara Sousa Milhomens

Brain abscess in adolescent caused by complicated sinusitis: a case report

Neurodevelopmental disorder with involuntary movements associated with the wars2 Gene in infant: a case report

Martin, Anna Rita Barcelos

Pigmentary incontinence (or Bloch-Sulzberger syndrome): a case report in a female infant with epilepsy

Therapeutic hypothermia initiated after 6 hours of age and benefits in the treatment of hypoxic ischemic encephalopathy

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Martins, Bernardo Jose Alves Ferreira

Short, medium and long term pituitary neuroradiological follow-up in children and adolescents after traumatic brain injury

Atrial myxoma's embolization and stroke causing aphasia in a bilingual (Persian and Portuguese) Iranian girl: a case report

Diffusion tensor tractography, motor, cognitive and behavior scales in a rehabilitation outcome following a pediatric traumatic brain injury: a case report

Martins, Caroline Scantamburlo

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

SMA type I - report of the evolution of a patient with treatment

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Martins, Caroline Sccantamburlo

Pelizaeus-Merzbacher disease (PMD): case report

Martins, Gabriella Maria Abreu

Neurological characteristics of Zika virus embryopathy cases in Ceará

Martins, Marlos Melo

Pelizaeus-Merzbacher disease (PMD): case report

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

Paroxysmal Kinesigenic Dyskinesia: when to Diagnose?

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Martins, Vinicius Spazzapan

Recurrent infectious encephalitis in adolescent: a case report and its differential diagnoses

Martins, William Alves

SCN2A mutation presenting with autism and epilepsy

Masselai, Ana Luiza

Menkes disease spectrum: a case report

Matte, Andressa Luise

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Mazza, Jeanne Alves de Souza

Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Mecê, Alexandre Motta

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Melo, Isabelle Diniz

Reduced fidgety movements in child prenatally exposed to SARS-CoV-2: a case report

Comparison between epilepsy hospitalization of Brazilian adult and pediatric patients in Brazil during the last decade

Mendes, Mariana Horst

Pelizaeus-Merzbacher disease (PMD): case report

Mendes, Naiane Cristina Ferreira

Paroxysmal Kinesigenic Dyskinesia: when to Diagnose?

Mendes, Patricia Loures Rossinol

Music as a tool in the development of children with autism spectrum disorders (ASD): case reports

Mendonca, Rodrigo Holanda

Safety and efficacy of gene therapy for patients with spinal muscular atrophy: a real-life study in a Brazilian cohort

Long-term follow-up of SMA type 1 treatment with Nusinersen: a single-center experience

Motor unit number estimation in patients with spinal muscular atrophy using the CMAP scan technique

Mendonça, Renata Silva

Gomez Lopez Hernadez syndrome: a case report

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Mendonça, Rodrigo de Holanda

Treatment of spinal muscular atrophy with onasemnogene abeparvovec: off-label case report and follow-up protocol proposal

Menegoni, Vinicius Lemos

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Michael, Lawlor

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Milano, Aline Sauzem

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Miller, Weston

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

Minami, Maria Avanise Yumi

Central nervous system complications of pediatric sinusitis

Case report: central nervous system vasculitis due to COVID-19

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Central nervous system complications secondary to rhinosinusitis: a case report

Disseminated tuberculosis in a three month old infant: effects on the central nervous system

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives

Miranda, Iris do Vale

Mutation in the TANGO2 gene in a pediatric patient

Rare case of congenital myopathy associated with the FXR1 gene

The use of cannabidiol in refractory epilepsy

Tay-Sachs disease with atypical evolution: case report

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

Miríade, Angel

Tuberous sclerosis complex and west syndrome: an assessment of cognitive aspects

Montano, Saul Alquez

Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives

Montano, Saul Didmar Alquez

Central nervous system complications of pediatric sinusitis

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Monteiro, Nicholas Pili

Clinical case report: headache due to cerebrospinal fluid hypotension treated with caffeine

Montes, Ana Clara Fandinho

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

Moraes, Aline dos Passos

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Moraes, Aluana

Neurodevelopmental disorder associated with the DOCK7 gene

Moraes, Marcelo Aragão

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Moreira, Ana Lucila

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Moreira, Isabelle Caroline Fasolo Normandia

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Moreira, Laila Prazeres

Ischemic arterial stroke, epileptic status and choreoathetosis in late vasculitis COVID-19: a case report

Moreira, Laila Prazeres Schulz

Central nervous system complications of pediatric sinusitis

Case report: central nervous system vasculitis due to COVID-19

Central nervous system complications secondary to rhinosinusitis: a case report

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Moreira, Thais Pereira

Acute cerebellar ataxia due to varicella zoster

Moreno, Cristiane Araujo Martins

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Moreno, Cristiane Araújo Martins

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Hypoglycemia in patients with LAMA2-CMD

Moretto, Ana Luisa Louisenço

Atrial myxoma's embolization and stroke causing aphasia in a bilingual (Persian and Portuguese) Iranian girl: a case report

Moretto, Ana Luisa Lourenço

Diffusion tensor tractography, motor, cognitive and behavior scales in a rehabilitation outcome following a pediatric traumatic brain injury: a case report

Moro, Julia Pustrelo

Hospital morbidity from nervous system diseases in the pediatric population in the Brazilian health system

Moro, Júlia Pustrelo

Leprosy in the pediatric population from Brazil: notifications from 2010 to 2019

Epidemiology of acute flaccid paralysis and vaccination coverage in the pediatric population of Rio Grande do Sul State, Brazil: an analysis from 2010 to 2019

Mota, Eduardo Cristhian Oliveira de Souza

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Mota, Gabriel Vitor Oliveira de Souza

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Mota, Luciano de Albuquerque

Comparison between epilepsy hospitalization of Brazilian adult and pediatric patients in Brazil during the last decade

Mota, Thamiris Nader

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Motta, Fabio Araujo

Epidemiologic profile of pediatric patients with signs and symptoms of intracranial hypertension and monitoring of brain compliance using a non-invasive device in a referral pediatric hospital in Brazil

Case report: evaluation of intracranial compliance in a child with subdural empyema

Moura, Amanda Silva

A case of unidentified prenatal holoprosencephaly and the need for a chromosomal study to guide management in future pregnancies

Moura, Ludimila Marins Almeida

COL4A1-related disorders: a case report

Moura, Ludimila Marins de Almeida

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Mulinari, Evandro Freddy

Childhood encephalitis: a challenging diagnosis

Müller, Ísis Feldens

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Müller-Felber, Wolfgang

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Mundim, Juliana Carvalho Esper

Neurodevelopmental disorder with involuntary movements associated with the wars2 Gene in infant: a case report

Mussi, Maria Júlia Soares

Aicardi syndrome: case report

Nabuco, Pávila Virginia De Oliveira

Therapeutic hypothermia initiated after 6 hours of age and benefits in the treatment of hypoxic ischemic encephalopathy

Nagata, Glauco Kody

SCN2A mutation presenting with autism and epilepsy

Nahim, Maria Juliana Silverio

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Napoleão, Raffaela Neves Mont'alverne

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Napoleão, Raffaela Neves Mont'Alverne

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Nascimento, Jeddson Rêgo

Insular cortex epilepsy in Rasmussen Syndrome: a case report

Nascimento, Pedro Paulo Gomes do

Acute encephalopathy and brain abnormalities on magnetic resonance imaging during combination therapy with adrenocorticotropic hormone and vigabatrin for infantile spasms

Nascimento, Rilvan Galileu Fernandes Oliveira do

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Naufel, Pedro Zambusi

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Naufel, Pedro Zambuzi

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

Negraes, Ricardo Torres

Psychiatric manifestations in posterior reversible encephalopathy syndrome

Neto, Antônio Rodrigues Coimbra

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Neto, Carlos de Almeida Dias

Neurodevelopmental disorder with or without hyperkinetic movements and seizures: a rare genetic case

Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Callosotomy: should it be indicated earlier?

Neto, Felipe Kalil

Lafora disease and metformin therapy: a case report

Neto, Gabriel de Lellis

Guillain-Barre Syndrome: Case Series

Adenovirus encephalitis associated with acute hepatitis: case report

Neto, Gabriel De Lellis

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Neto, Gabriel Lellis

Thrombolysis in pediatric acute ischemic stroke: two case reports

Neto, José Ribamar Pereira

Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Neto, Manoel Jacinto de Abreu

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Neto, Manuel Jacinto de Abreu

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Neto, Nilson Russi

Pelizaeus-Merzbacher disease (PMD): case report

Neves, Pedro Rodrigues

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Nicaretta, Augusto

Leprosy in the pediatric population from Brazil: notifications from 2010 to 2019

Hospital morbidity from nervous system diseases in the pediatric population in the Brazilian health system

Central nervous system histoplasmosis in an immunocompetent 5-year-old patient: a case report

Epidemiology of acute flaccid paralysis and vaccination coverage in the pediatric population of Rio Grande do Sul State, Brazil: an analysis from 2010 to 2019

Nigel, Laing

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Nitsche, Anderson

Nemaline myopathy with severe congenital manifestation

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Nogueira, Juliana Bento Rodrigues Gomes

Acute cerebellar ataxia due to varicella zoster

Nomura, Alvaro Massao

Hip dislocation in children with congenital Zika virus syndrome

Novadzki, Iolanda Maria

Quality of life in down syndrome in Brazil

Nucci, Anamarli

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Nunes, Magda Lahorgue

Getting to know the needs of caregivers of children and adolescents with epilepsy for the development of technological tool

Nunes, Renato Lobato da Costa

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Ohlweiler, Lygia

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Guillain-Barre Syndrome: Case Series

Adenovirus encephalitis associated with acute hepatitis: case report

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Olbertz, Clarissa Miranda Carneiro Albuquerque

Pharmacological management of chronic pain in children and adolescents with cerebral palsy and hip dislocation

Olbertz, Clarissa Miranda Carneiro de Albuquerque

Hip dislocation in children with congenital Zika virus syndrome

Oliboni, Thiago Minossi

Getting to know the needs of caregivers of children and adolescents with epilepsy for the development of technological tool

Oliveira, Ana Beatriz Arruda Carvalho

Gomez Lopez Hernadez syndrome: a case report

PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Oliveira, Betânia Souza

Pharmacological management of chronic pain in children and adolescents with cerebral palsy and hip dislocation

Oliveira, Lorena Fernanda Costa

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

Oliveira, Samantha Lopes

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Oliveira, Thaís de Almeida F. Fonseca

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Oliveira, Thais de Almeida Fonseca

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Use of carglumic acid in propionic acidemia: a case report

Oliveira, Thaís de Almeida Fonseca

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Ordonho, Laura Comeli

Case report: hyperkinetic movement disorder in a patient with heterozygous mutation in the GNAO1 gene

Ortega, Adriana Banzzatto

Safety and efficacy of gene therapy for patients with spinal muscular atrophy: a real-life study in a Brazilian cohort

Nemaline myopathy with severe congenital manifestation

Gene therapy treatment in SMA with positive AAV9 antibodies

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Treatment of spinal muscular atrophy with onasemnogene abeparvovec: off-label case report and follow-up protocol proposal

Description protocol used to monitor patients treated with gene therapy

Ortega, Roberta Paiva Magalhaes

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

Pachelli, Pedro Eugenio

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Paganelli, Maria Stela Lessa

Aromatic L-amino acids decarboxylase (AADC) deficiency: a case report

Paiva, Amanda Povoa

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Paiva, Amanda Póvoa

Case report: central nervous system vasculitis due to COVID-19

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

Paixão, Taynara Cristina

Application of pediatric symptoms checklist in students with academic underachievement

Palajo, Christina

Case report: scurvy in a child with autistic spectrum disorder due to food selectivity

Paolilo, Renata Barbosa

Use of plasmapheresis in acquired demyelinating syndromes

Post-vaccination Guillain-Barre syndrome: a case report

Tourettism secondary to multiple sclerosis

Paschoal, Lana Correa

Pelizaeus-Merzbacher disease (PMD): case report

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

SMA type I - report of the evolution of a patient with treatment

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Passos, Maria Lina Giacomino de Almeida

Pelizaeus-Merzbacher disease (PMD): case report

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Pavanelli, Giovana Memari

A Brazilian ACTH therapy protocol for west syndrome in environmental treatment

Pegoraro, Naiara Bozza

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Pereira, Aline Chacon

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Pereira, André Curioletti

Application of a questionnaire for screening anxiety disorder in adolescents

Application of conners rating scale on school with underachievement academic

Screening for psychosocial and emotional problems on children with atopic dermatitis

Pereira, Antônio Diniz da Rosa

Infantile neuroaxonal dystrophy associated with seizures in a patient from a teaching hospital in southern Brazil: case report

Dandy Walker malformation variant associated with refractory seizures in a 6-month-old baby: case report

Septo-optic dysplasia plus: case report

Pereira, Layanna Bezerra Maciel

Guillain-Barre Syndrome: Case Series

Adenovirus encephalitis associated with acute hepatitis: case report

Thrombolysis in pediatric acute ischemic stroke: two case reports

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Peruzzi, Lais Russo Carneiro

Case report: pontocerebellar hypoplasia type 1D

Peruzzi, Laís Russo Carneiro

Mutation in the TANGO2 gene in a pediatric patient

Tay-Sachs disease with atypical evolution: case report

Pessoa, Andre Luiz Santos

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Neurological characteristics of Zika virus embryopathy cases in Ceará

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Pessoa, André Luiz Santos

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil

Pessoa, André Santos

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Pessoa, Eloisa Barros

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Pessoas, Ingrid Lacerda

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Piai, Caroline Brandão

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Pietrobom, Rafaela Fabri Rodrigues

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Pinheiro, Rafaela dos Santos

Pediatric multiple sclerosis post covid: a case report

Pinheiro, Talys Jason

COL4A1-related disorders: a case report

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Pinho, Ricardo da Silva

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Pinho, Ricardo Silva

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Polido, Graziela Jorge

Long-term follow-up of SMA type 1 treatment with Nusinersen: a single-center experience

Poliseli, Pietra Giovana

Pediatric multiple sclerosis post covid: a case report

Polloni, Cláudia Ambrosio

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

West syndrome: the importance of early diagnosis

Portugal, Carolina Augusta Arantes

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

Possan, Pedro Arthur

Epileptic encephalopatis: is it avoidable?

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Pozzi, Cristina Maria

Aicardi syndrome: case report

Pozzobon, Lucas Lizot

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Précoma, Marina Massuchin

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Developmental disorders associated with PTEN gene: case series report

Prestes, Ana Clarice

Miller Fisher syndrome after COVID-19 vaccination: a case report

Prestes, Ana Clarice Bartosievicz

Tay-Sachs disease without cherry-red spot: a case report

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Central nervous system juvenile xantogranuloma: a case report

Prestes, Clarice

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Przybysz, Débora Cristina

Sleep disturbances in children with learning difficulties

Speech disorders in children with learning disabilities

Quadros, Renata Beatriz Boechat

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

Paroxysmal Kinesigenic Dyskinesia: when to Diagnose?

Queiroga, Lorena Passos

Neurological characteristics of Zika virus embryopathy cases in Ceará

Queiroz, Amadeu Jose Rodrigues

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Queiroz, Amadeu José Rodrigues

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Ramos, Gabriel Frizzo

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Ramos, Jessyca Thays Melo de Andrade

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

RamosVasconcelos, Helen

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Ranzan, Josiane

Guillain-Barre Syndrome: Case Series

Adenovirus encephalitis associated with acute hepatitis: case report

Thrombolysis in pediatric acute ischemic stroke: two case reports

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Razera, Caroline

Anti-N-Methyl-D-Aspartate receptor encephalitis by prior epstein barr infection

Reed, Umbertina

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Reed, Umbertina Conti

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Long-term follow-up of SMA type 1 treatment with Nusinersen: a single-center experience

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Hypoglycemia in patients with LAMA2-CMD

Reinehr, Marcelo Vitória

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Reis, Victoria Faustino da Silva

Neuronal ceroid lipofuscinosis type 1: a case report

Reis, Victoria Faustino Silva

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

Rezende, Julia Vilela

Pearson's syndrome: a case report

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Rezende, Lorena Vilela

Mitochondrial disorder related to the AFG3L2 gene in a boy with neurodevelopmental delay, ataxia and refractory epilepsy

Neurodevelopmental disorder related to the GABRB2 gene as a differential diagnosis of angelman syndrome: case report

Pearson's syndrome: a case report

Follow-up younger patient with anti-NMDA-R encephalitis

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

4H leucodystrophy phenotypical variation among two brothers: a case report

Ribeiro, Ana Paula Faria

Disseminated tuberculosis in a three month old infant: effects on the central nervous system

Ribeiro, Ana Paula Faria Faria

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

Ribeiro, Bruna Freire

Application of pediatric symptoms checklist in students with academic underachievement

Ribeiro, Erlane Marques

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Neurological characteristics of Zika virus embryopathy cases in Ceará

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil

Ribeiro, Fernanda Magalhães Bastos

Acute cerebellar ataxia due to varicella zoster

Ribeiro, Laryssa da Silva

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Ribeiro, Marcia Regina

West syndrome: the importance of early diagnosis

Ricieri, Marinei Campos

Epidemiologic profile of pediatric patients with signs and symptoms of intracranial hypertension and monitoring of brain compliance using a non-invasive device in a referral pediatric hospital in Brazil

Case report: evaluation of intracranial compliance in a child with subdural empyema

Riesgo, Rudimar dos Santos

Adenovirus encephalitis associated with acute hepatitis: case report

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Riesgo, Rudimar Santos

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Thrombolysis in pediatric acute ischemic stroke: two case reports

Rigoldi, Lisandra C. F.

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Rigoldi, Lisandra Coneglian de Farias

Post-covid Guillain-Barre syndrome with atypical clinical presentation

4H leucodystrophy phenotypical variation among two brothers: a case report

Rigoldi, Lisandra Coneglian Farias

Follow-up younger patient with anti-NMDA-R encephalitis

Rocha, Antônio José

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Rocha, Loiane Dante Correia

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Rodrigues, Aline Campos Fontenele

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil

Rodrigues, Bárbara Rocha

Therapeutic hypothermia initiated after 6 hours of age and benefits in the treatment of hypoxic ischemic encephalopathy

Rodrigues, Clarissa Ferraz

Getting to know the needs of caregivers of children and adolescents with epilepsy for the development of technological tool

Rodrigues, Daniela Pereira

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Rodrigues, Danielle C. B.

Myoclonic-chorea in PURA syndrome

Rodrigues, Danielle Caldas Bufara

A Brazilian ACTH therapy protocol for west syndrome in environmental treatment

Rodrigues, Gabriel

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Getting to know the needs of caregivers of children and adolescents with epilepsy for the development of technological tool

Rodrigues, Gabriela Esmanhoto

A mutation in a one-year-old girl: a case report

Pathological EXOSC3 mutation and its neurological manifestations: a case report

Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Rodrigues, Larissa Firme

Seizures in pediatric emergency and autoimmune encephalitis, an essential and challenging differential diagnosis: a case report

West syndrome: the importance of early diagnosis

Rodrigues, Marcelo

Myoclonic status epilepticus in a pediatric patient: case report

Rodrigues, Marcus Vinicius Teles

Atrial myxoma's embolization and stroke causing aphasia in a bilingual (Persian and Portuguese) Iranian girl: a case report

Diffusion tensor tractography, motor, cognitive and behavior scales in a rehabilitation outcome following a pediatric traumatic brain injury: a case report

Rodrigues, Nicolas

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Rodrigues, Yan Victor Araújo

Perception of family physicians regarding identification of autism spectrum disorder

Rojas, Catarina Falleiros Nogueira

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Rosa, Matheus de Souza

Case report: central nervous system vasculitis due to COVID-19

Central nervous system complications secondary to rhinosinusitis: a case report

CDKL5 deficiency disorder: case report of a possible new pathogenic variant

Rosemberg, Sérgio

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

Rossinol, Vanessa Loures

Music as a tool in the development of children with autism spectrum disorders (ASD): case reports

Rothenburg, Letícia

Aicardi syndrome: case report

Roubertie, Agathe

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Royer, Carmem Denise

Application of a questionnaire for screening anxiety disorder in adolescents

Application of conners rating scale on school with underachievement academic

Application of pediatric symptoms checklist in students with academic underachievement

Rubim, Renata Orlandi

Perception of family physicians regarding identification of autism spectrum disorder

Rufino, Kleiton Rodolfo da Silveira

Case report: pontocerebellar hypoplasia type 1D

Rufino, Kleiton Rodolfo Silveira

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Russell, Alexis

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Russi, Sofia

Pelizaeus-Merzbacher disease (PMD): case report

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

SMA type I - report of the evolution of a patient with treatment

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Saad, Tânia

COL4A1-related disorders: a case report

Sakai, Eric Oneda

COVID-19 infection as trigger of chronic inflammatory demyelinating polyneuropathy (CIDP)

Saldanha, João Carlos

Pigmentary incontinence (or Bloch-Sulzberger syndrome): a case report in a female infant with epilepsy

Salles, Tania Regina Dias Saad

Neurodegenerative disease caused by the TRAPPC4 gene

Neurological disorder related to ATP1A3: importance of diagnosis

Sampaio, Letícia Pereira Brito

Child neurology residency in Brazil: current scenario

Sampaio, Leticia Pereira de Brito

Landau-Kleffner Syndrome: the challenges of its treatment

Canvan's disease: case report

Sampaio, Letícia Pereira de Brito

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Rasmussen Encephalitis: drug treatments and results after surgery followed up in a large medical center in Brazil

Sampaio, Pedro Henrique Marte de Arruda

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Sandes, Luiza Fernandes Fonseca

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Atypical presentation of opsoclonus-myoclonus-ataxia syndrome in a newborn: a case report

Sanfelice, Gabriela Maycá

Childhood encephalitis: a challenging diagnosis

Sansao, Lilian

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Sansão, Lilian

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Santana, Joanna Sousa Fonseca

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

Santana, Renan Guimaraes

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Santana, Renan Guimarães

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Use of carglumic acid in propionic acidemia: a case report

Santin, Maria Helena Romano

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Santos, Berkmis Viana

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Santos, Camilo Vieira

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Santos, Carolina Paixão

Niemann Pick Type C1: a rare disease and a race against time

Presence of point mutation in APC2 gene in patient presenting Sotos’-like fenotype: a case report

Santos, Daniela Fernanda Almeida

Central nervous system complications of pediatric sinusitis

Santos, Daniela Fernanda de Almeida

Case report: central nervous system vasculitis due to COVID-19

Central nervous system complications secondary to rhinosinusitis: a case report

Santos, Giuliana Almeida da Silvas

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Santos, Kaue Magalhães Castro

The management of innovative technologies of radioelectric neuromodulation in a child patient with autism spectrum disorder (ASD)

Santos, Kléber Cavalcante

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Santos, Luciana Cristina de Carvalho

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Santos, Mara Lucia S. F.

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Santos, Mara Lucia Schmitz Ferreira

Pearson's syndrome: a case report

Nemaline myopathy with severe congenital manifestation

Central nervous system juvenile xantogranuloma: a case report

Santos, Mara Lúcia Schmitz Ferreira

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Santos, Mariana Martins Dantas

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Saul, Ana Clara Bernardi

Adenovirus encephalitis associated with acute hepatitis: case report

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Schaffelu, Milena de Souza Alvarenga

Neuronal Ceroid Lipofuscinosis Type 2- Early Diagnosis Importance for Treatment Start with Cerpolinase Alfa: A Case Report

Septic thrombosis of the cavernous sinus secondary to meningitis: case report from a referral hospital in Espirito Santo

Posterior reversible encephalopathy syndrome (PRES) in pediatrics: 2 report cases and literature review

Schell, Paula Luísa Lopes

Mutation in the TANGO2 gene in a pediatric patient

The use of cannabidiol in refractory epilepsy

Tay-Sachs disease with atypical evolution: case report

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

Schmutzler, Katia Maria Ribeiro

Infantile neuroaxonal dystrophy (INAD): a case report

Schmutzler, Kátia Maria Ribeiro da Silva

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Schmutzler, Kátia Maria Ribeiro Silva

Fowler syndrome: a case report

Schuh, Andressa

Steinert's myotonic dystrophy: a case report

Scornavacca, Francisco

Clinical case report: headache due to cerebrospinal fluid hypotension treated with caffeine

Seidler, Flávia

Use of cannabidiol in child with refractory seizures: sustained clinical improvements

Selvatici, Amanda

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Serafim, Alexandre

Landau-Kleffner Syndrome: the challenges of its treatment

Serra, Mateus Gomes da Silva

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Shell, Paula Luisa Lopes

Rare case of congenital myopathy associated with the FXR1 gene

Shieh, Perry

ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in four deceased study participants

Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

Sigilião, Margareth Santos Ramires

Acute cerebellar ataxia due to varicella zoster

Silva, Ana Paula Resende

Follow-up younger patient with anti-NMDA-R encephalitis

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Silva, André Macedo Serafim

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Hypoglycemia in patients with LAMA2-CMD

Silva, Benaia

Case report: hyperkinetic movement disorder in a patient with heterozygous mutation in the GNAO1 gene

Silva, Bruno Barbosa Oliveira

Pharmacological management of chronic pain in children and adolescents with cerebral palsy and hip dislocation

Silva, Giulia Vilela

Menkes disease spectrum: a case report

Mitochondrial disorder related to the AFG3L2 gene in a boy with neurodevelopmental delay, ataxia and refractory epilepsy

Neurodevelopmental disorder related to the GABRB2 gene as a differential diagnosis of angelman syndrome: case report

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Pearson's syndrome: a case report

Nemaline myopathy with severe congenital manifestation

Encephalomyelitis by adenovirus

Follow-up younger patient with anti-NMDA-R encephalitis

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

4H leucodystrophy phenotypical variation among two brothers: a case report

Developmental disorders associated with PTEN gene: case series report

Silva, Thiago Quinaglia Araújo Costa

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Silveira, Lívia Coutinho

Animal-assisted therapy in the process of physical and mental rehabilitation of patients with disabilities

Silveira, Luiza Oliveira Prata

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Silveira, Vanessa Cristina Guedes

Brain abscess in adolescent caused by complicated sinusitis: a case report

Neurodevelopmental disorder with involuntary movements associated with the wars2 Gene in infant: a case report

Silverio, Gabriel Andre

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Silvério, Gabriel André

Epileptic encephalopatis: is it avoidable?

Silveriov, Gabriel Andre

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Sindeaux, Raquel Diogenes Alencar

Treatment with Ataluren in seven brazilian boys with Duchenne muscular dystrofhy (DMD) caused by nonsense mutation: real-world experience

Sindeaux, Raquel Diógenes Alencar

Long term use of deflazacort or prednisolone in patients with Duchenne muscular dystrophy: experience at a large Brazilian center

Siqueira, Carla Lenita Coelho

Neurodevelopmental disorder with or without hyperkinetic movements and seizures: a rare genetic case

Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Callosotomy: should it be indicated earlier?

Siqueira, Manuella Pinto Pessanha

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

Niemann Pick Type C1: a rare disease and a race against time

Solano, Melanie Scarlet Diaz

Tay-Sachs disease without cherry-red spot: a case report

Miller Fisher syndrome after COVID-19 vaccination: a case report

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Neuronal ceroid lipofuscinosis type 7: a case report

Solano, Melanie Scarlet Díaz

First demyelinating event with atypical evolution after vaccination in a pediatric patient: a case report

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Use of Cannabidiol in pediatric patients with refractory epilepsy of different etiologies

Reversible posterior leukoencephalopathy syndrome in a pediatric patient

Sommavilla, Larisse Souza

Infantile neuroaxonal dystrophy (INAD): a case report

Sommavilla, Larisse Souza de Morais

SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Sommavilla, Larisse Souza Morais

Fowler syndrome: a case report

Soncini, Luize Costa

Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report

Epileptic encephalopathy due to GLUT1 deficiency: a case report

Soriano, Luan Guanais

New mutation in SCN8A gene associated severe developmental and epileptic encephalopathy type 13: the importance of genetic test and genotype-phenotype correlation

Sostruznik, Stefânia Simon

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Sousa, Letícia Silva

Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale

Sousa, Renata Yasmim Cardoso

Adenovirus encephalitis associated with acute hepatitis: case report

Sousa, Renata Yasmin Cardoso

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Guillain-Barre Syndrome: Case Series

Thrombolysis in pediatric acute ischemic stroke: two case reports

Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Souza, Ana Cleide Silva

Pott puffy tumor: a rare case of secondary headache

Psychiatric manifestations in posterior reversible encephalopathy syndrome

Souza, Ana Luiza Gomes de

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Souza, Anna Paula Monteiro de

Steinert's myotonic dystrophy: a case report

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Souza, Bruna Freitas

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Souza, Felipe Augusto Poli de

Acute encephalopathy and brain abnormalities on magnetic resonance imaging during combination therapy with adrenocorticotropic hormone and vigabatrin for infantile spasms

Souza, Fernanda Aparecida Costa

Acute cerebellar ataxia due to varicella zoster

Souza, Fernanda Lorena de

Myoclonic status epilepticus in a pediatric patient: case report

Souza, Iana Maciel Silva

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Souza, Josiane de

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Souza, Lucas Santos

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Souza, Lucas Sousa de

The application of neuromodulation protocols in a child with attention deficit hyperactivity disorder: a case report

Souza, Lucas Sousa e

Analysis of aspects and impacts of attention deficit and hyperactivity disorder in child neurodevelopment: a narrative review of the past 10 years (2012-2022)

Souza, Luciana de Paula

A Brazilian ACTH therapy protocol for west syndrome in environmental treatment

Souza, Marcela Gonçalves de

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Souza, Mariana Menegon de

Childhood encephalitis: a challenging diagnosis

Souza, Mariana Menengon de

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Souza, Murilo Possani

Acute cerebellar ataxia due to varicella zoster

Souza, Vitor Reis de

Clinical case report: headache due to cerebrospinal fluid hypotension treated with caffeine

Spinosa, Monica Jaques

Encephalomyelitis by adenovirus

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Stritthorst, Eduarda

Application of pediatric symptoms checklist in students with academic underachievement

Surkamp, Nicolle

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Tagliari, Nicole Zanardo

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Childhood encephalitis: a challenging diagnosis

Lafora disease and metformin therapy: a case report

Tai, Chun-Hwei

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Takeshita, Bruno Toshio

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome

Tamura, Andressa Naomy

Screening for psychosocial and emotional problems on children with atopic dermatitis

Tavares, Louise Scridelli

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Tavares, Patricia Semino

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Tazinassi, Melina Giroto

Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Teive, Hélio Afonso Ghizoni

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome

Teixeira, Amanda Regina Farias

Pelizaeus-Merzbacher disease (PMD): case report

Intrauterine diagnosis of SMA type 1 and early initiation of therapy: case report

SMA type I - report of the evolution of a patient with treatment

Drug-resistant seizures in a teenager with a variant of uncertain significance in PCDH19

Case report: metachromatic leukodystrophy, its clinical evolution and diagnostic management

Initial manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) at an infant

Teixeira, Beatriz Esmeraldo

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Difficulties in treating CLN2 through enzyme replacement therapy

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Teixeira, Karine Couto Sarmento

Infantile neuroaxonal dystrophy (INAD): a case report

Basal ganglia ischemia associated with sars-cov infection in infant: a case report

New inflammatory and genetic condition manifesting with recurrent strokes at young age: DADA-2

Fowler syndrome: a case report

A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient

Teixeira, Mariana de Souza Rocha

Profile of patients with neurological impairment treated at the medical genetics service of reference in Northeast Brazil

Neurological characteristics of Zika virus embryopathy cases in Ceará

Difficulties in treating CLN2 through enzyme replacement therapy

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil

Mucopolysaccharidosis III at the reference center for rare diseases of Ceará

Teixeira, Robson Marques Figueiredo Rocha

Aromatic L-amino acids decarboxylase (AADC) deficiency: a case report

Telles, Clara Gruber

Autism and sexuality: review and discussion

Families with children in the autism spectrum disorder: tracing difficulties and support strategies

Terra, Vera Cristina

Epileptic encephalopatis: is it avoidable?

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Tessaro, Tainara Zappia

A case report of a response to onasemnogen abeparvoveque in a 7-year-old child with SMA Type 2

Thiersch, Laura Maria Silva

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Use of carglumic acid in propionic acidemia: a case report

Thiersh, Laura Maria Silva

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Thomaz, Debora Carinhato

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Tomaz, Debora

Unraveling phenotypes in Brazilian patients with cutaneous porphyrias: the impact of next generation sequencing with a targeted gene panel

Next generation sequencing in the diagnosis of Acute Hepatic Porphyrias (AHP): unraveling the molecular basis of AHP in Brazilian patients

Torres, Bruna Ribeiro

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Use of carglumic acid in propionic acidemia: a case report

Torres, Larissa

Child neurology residency in Brazil: current scenario

Torres, Mateus Oliveira

p.Arg499His mutation in SPAST associated with infantile-onset complicated spastic paraplegia in a child with bilateral retinoblastoma: association or coincidence?

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Mutilating hereditary sensory and autonomic neuropathy associated with WNK1 gene

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Trentin, Cristina Detoni

Acute disseminated encephalomyelitis (ADEM) in children: a case report

Childhood encephalitis: a challenging diagnosis

Lafora disease and metformin therapy: a case report

Trevisan, Gabriela Schmitt

Epileptic encephalopatis: is it avoidable?

Is it seizures? Non-epileptic events in a child with Tay-sachs disease

Post-herpetic encephalitis presenting with epilepsia partialis continua

SEEG in a child with focal cortical dysplasia: is it safe?

Troijo, Eduardo Ferraz

An atypical phenotype of myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD)

L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Tumas, Vitor

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Ulsenheimer, Maria Monica Machado

Myoclonic status epilepticus in a pediatric patient: case report

Uyeda, Hirofumi

Screening for psychosocial and emotional problems on children with atopic dermatitis

Vainzof, Mariz

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Valadão, Mariana Braga

Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

Complex encephalopathy associated to mutation in the GRIN2B gene: case report

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Valeriano, Katrine de Freitas

Unilateral retinoblastoma, autism spectrum disorder and macrocrania in 13q deletion syndrome: a case report

Valeriano, Katrine Freitas

First Brazilian case of rare mitochondrial myopathy and ataxia associated to MSTO1 variants

Opsoclonus-myoclonus-ataxia Syndrome: A Pediatric Oncology Hospital Experience

Valim, Mariah Pereira Andrade

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Valle, Daniel Almeida

Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Early-onset epilepsy in complex II mitochondrial disorder related to the SDHA gene

Valle, Daniel Almeida do

Menkes disease spectrum: a case report

Neurodevelopmental disorder related to the GABRB2 gene as a differential diagnosis of angelman syndrome: case report

Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Nemaline myopathy with severe congenital manifestation

Encephalomyelitis by adenovirus

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Molybdenum Cofactor Deficiency with Cerebral Atrophy

4H leucodystrophy phenotypical variation among two brothers: a case report

Developmental disorders associated with PTEN gene: case series report

Vallim, Mariah Pereira de Andrade

Mitochondrial disorder related to the AFG3L2 gene in a boy with neurodevelopmental delay, ataxia and refractory epilepsy

Neurodevelopmental disorder related to the GABRB2 gene as a differential diagnosis of angelman syndrome: case report

Pearson's syndrome: a case report

Follow-up younger patient with anti-NMDA-R encephalitis

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

4H leucodystrophy phenotypical variation among two brothers: a case report

Valuta, Marília Gabriela

Arteriovenous malformation of the vein of Galen in the pediatric patient: a case report

Vandermas, Gabriela Franco

Acute cerebellar ataxia due to varicella zoster

Varela, David Greco

Video Head Impulse Test (VHIT) in preadolescents with dizzines could be a safe choice?

Variane, Gabriel Fernando Todeschi

Could preterm infants benefit from neuromonitoring with video AEEG/EEG?

The impact of a telemedicine neuromonitoring protocol for perinatal asphyxia in neonatal intensive care units

The role of the continuous brain monitoring with video AEEG/EEG for neonates with suspected seizures

Vasconcelos, Emmanuelle Souza

Difficulties related to the diagnosis and treatment of autism spectrum disorder in the SUS network in Salvador-BA

Vasconcelos, Helen Ramos

Mutation in the TANGO2 gene in a pediatric patient

The use of cannabidiol in refractory epilepsy

Tay-Sachs disease with atypical evolution: case report

Relevance of the transition ambulatory of epilepsy

Vasconcelos, Matheus Carvalho

Hyperphenylalaninemia as a cause of Autism Spectrum Disorder (ASD) in patients from the national neonatal screening program in a Northeastern Brazilian state

Vasconcelos, Sâmara Pinto

Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Neuronal ceroid lipofuscinosis type 1: a case report

Vasoncelos, Helen Ramos

Rare case of congenital myopathy associated with the FXR1 gene

Veiga, Gabriel Lemos Da

Steinert's myotonic dystrophy: a case report

Velani, Bruna Ramos

Neurocutaneous Melanocytosis: Case Report of a Catastrophic Evolution

Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Vequi, Gabriela

Aicardi syndrome: case report

Viana, Marylane da Silva

Reduced fidgety movements in child prenatally exposed to SARS-CoV-2: a case report

Vieira, Júlia Lopes

Severe and moderate autism spectrum disorder: serial cases treated with combined usage of Cannabidiol and Tetrahydrocannabinol, in a university hospital

Vilela, Bruna Campos Cardoso

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Villela, Gabriela Rochedo

Neuronal ceroid lipofuscinosis: when to use right clues for a rare disease?

Niemann Pick Type C1: a rare disease and a race against time

Viriato, Adriele Ribeiro França

Recurrent rhabdomyolysis due to long chain Hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report

Vita, Wendell Paiva

Myoclonic status epilepticus in a pediatric patient: case report

Wajnsztejn, Alessandra Bernardes Caturani

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Wajnsztejn, Rubens

Mutation in the TANGO2 gene in a pediatric patient

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

The use of cannabidiol in refractory epilepsy

Prevalence of use of teratogenic antiepileptic drugs in female patients referred to the transition ambulatory of epilepsy

Relevance of the transition ambulatory of epilepsy

Case report: pontocerebellar hypoplasia type 1D

Wang, Antonia

Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

Watanabe, Renata Keiko

First thrombolysis in a 2-year-old child with ischemic stroke at HC FMUSP: case report

Wehmut, Mariane

Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report

Wehmuth, Mariane

Study of factors associated with the level of autism spectrum disorder in a clinical sample

Miller Fisher syndrome after COVID-19 vaccination: a case report

Winckler, Maria Isabel Bragatti

Leukoencephalopathy with cerebral calcifications and cysts: a case report

Guillain-Barre Syndrome: Case Series

Adenovirus encephalitis associated with acute hepatitis: case report

Thrombolysis in pediatric acute ischemic stroke: two case reports

Wollmann, Mariana Yamamoto

The first unprovoked seizure in children from a reference tertiary care center in Paraná, Brazil

Wollmeister, Eduarda Vogel

Diagnostic process of patient with PANDAS syndrome: case report

ACTH versus corticosteroid in infantile spasms: a literature review

Ependymoma as a final diagnosis of pneumonia suspect: case report

Woloszin, Greice

Pediatric multiple sclerosis post covid: a case report

Xavier, Christovão de Castro

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Yaluzan, Robinson Cardoso Machado

Psychiatric manifestations in posterior reversible encephalopathy syndrome

Yamamoto, Guilherme

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Yoshida, Sanny Kemelly Miquelante

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Zambrana, Ana Isabel

Epileptic Encephalopathy due cyclin-dependent kinase type 5 (CDKL5) gene changes: a case report

Zaneli, Carina Cássia

Prevalence of intellectual disability as a comorbidity of autism spectrum disorder in patients with multidisciplinary examination at the specialized learning center (NEA) of Faculdade de Medicina do ABC

Zanette, Laurize Palma Hendges

Lafora disease and metformin therapy: a case report

Zanoteli, Edmar

Nemaline myopathy in Brazilian patients: clinical, muscle imaging and molecular characterization

Safety and efficacy of gene therapy for patients with spinal muscular atrophy: a real-life study in a Brazilian cohort

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Long-term follow-up of SMA type 1 treatment with Nusinersen: a single-center experience

Motor unit number estimation in patients with spinal muscular atrophy using the CMAP scan technique

Long term use of deflazacort or prednisolone in patients with Duchenne muscular dystrophy: experience at a large Brazilian center

Muscle ultrasound as a tool for respiratory assessment in patients with LAMA2-MD

Hypoglycemia in patients with LAMA2-CMD

Treatment with Ataluren in seven brazilian boys with Duchenne muscular dystrofhy (DMD) caused by nonsense mutation: real-world experience

Zeny, Michelle

Follow-up younger patient with anti-NMDA-R encephalitis

Zeny, Michelle Silva

Pearson's syndrome: a case report

Encephalomyelitis by adenovirus

Post-covid Guillain-Barre syndrome with atypical clinical presentation

Scholar patient with autoimmune encephalitis after being infected with SARSCov2

Case report of two brothers with infantile Parkinsonism-dystonia (OMIM #613135)

Epileptic Encephalopathy due cyclin-dependent kinase type 5 (CDKL5) gene changes: a case report

4H leucodystrophy phenotypical variation among two brothers: a case report

Zomerfeld, Mariana Defazio

Application of conners rating scale on school with underachievement academic

Application of pediatric symptoms checklist in students with academic underachievement

Application of SNAP-IV scale on children with academic underachievement

Zonoteli, Edmar

Early recognition of Duchenne muscular dystrophy: where could we improve?