DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

eFirst

Publication Date: 03 December 2021

Case Report

Wolf, Steven; Rhoads, Andrew; Gomes, William; Overby, Philip; McGoldrick, Patricia: Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Publication Date: 25 November 2021

Publication Date: 16 November 2021

Case Report

Cuérel, Céline; Habre, C.; Steiger, Christina N.; DeMarco, Giacomo; Tabard-Fougère, Anne; Merlini, Laura; Sahyoun, Cyril; Dayer, Romain O.; Ceroni, Dimitri: Pediatric Sciatic Neuropathy Secondary to Subacute Ischial Osteomyelitis: A Case Report

Original Article

Publication Date: 29 October 2021

Case Report

Case Report

Kadam, Sandeep; Chavan, Rajendra; Kadam, Archana; Patole, Sanjay: Partial Regression of Congenital Brain Stem Glioma and Its Outcome

Case Report

Case Report

Sheth, Swapnil; Sud, Seema; Buxi, Tarvinder B. S.; Bhargava, Salil; Puri, Ratna Dua; Sandal, Sapna; Agrawal, C.S: Aceruloplasminemia: MRI and Biochemical Profile Clue to Early Diagnosis in an Adolescent

Publication Date: 25 October 2021

Case Report

Henneberg, Rebecca Lise Gammelgaard; Vandborg, Pernille Kure; Hansen, Jonas Kjeldbjerg: A Pediatric Case of Benign Episodic Unilateral Mydriasis with Clinical Characteristics Resembling Tadpole Pupil

Case Report

Shree, Nivya; Kommalur, Anitha; M., Lakshmi; Kariyappa, Mallesh; Devadas, Sahana; Kumble, Dhanalakshmi; Sajjan, Sushma Veeranna; Rangegowda, Ravichandra Kothur; Patel, Ashray Sudarshan: Acute Ischemic Stroke in a Young Child and Its Association with SARS-CoV-2 Infection

Original Article

Akyel, Nazlı Gülsüm; Alımlı, Ayşe Gül; Sivri, Mesut; Akmaz Ünlü, Havva; Tiftik, Mehmet: Diagnostic Accuracy of SWAN in the Diagnosis of Low-Flow Brain Vascular Malformations in Childhood

Publication Date: 17 August 2021

Case Report

Monjaras-Romo, Alejandro; Villarreal, Enrique G.; Diaz-Arizpe, Oscar; Vazquez-Mena, Jesus; Lozano-Lee, Francisco; Tambasco, Nicola: Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and Therapeutic Challenges

Publication Date: 11 August 2021

Case Report

Chandran, Shanu; Muthanandam, Dhayaguruvasan; Ponmudi, Nithya; Kumar, Manish: Expanding the Phenotype of Molybdenum Cofactor Deficiency in Neonates: Report of Two Cases

Publication Date: 26 July 2021

Publication Date: 23 July 2021

Case Report

Letter to the Editor

Sánchez Marco, Silvia Beatriz; Peña Segura, José Luis; López Lafuente, Amparo; López Pisón, Javier; Lafuente Hidalgo, Miguel; Pérez Delgado, Raquel: Spastic Paraplegia Type 57: A Cerebral Palsy Mimic

Publication Date: 22 July 2021

Case Report

Hamid, Omer Abdul; Klimo, Paul; Choudhri, Asim F.; Shah, Namrata: Idiopathic Moyamoya Disease Presenting as Isolated Hemichorea

Publication Date: 19 July 2021

Case Report

Baskar, Dipti; Nashi, Saraswati; Rajendran, Srijithesh P.; Arunachal, Gautham; Christopher, Rita; Kulkarni, Girish B.; Alladi, Survarna: Screening for Inherited Metabolic Disorders by Tandem Mass Spectrometry May Miss L-2 Hydroxy Glutaric Aciduria: A Report of Two Cases

Publication Date: 08 July 2021

Case Report

Freitas, Leonardo Furtado; Barros, Gabriel Santaterra; Barletta, Enrico Affonso; de Araújo Coimbra, Pablo Picasso; Lourenço, Charles Marques; Ferreira, Paula Mendes: Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

Publication Date: 03 July 2021

Original Article

Becker, Lena-Luise; Weiss, Claudia; Günther, René; Hermann, Andreas; Theophil, Manuela; Hübner, Angela; Smitka, Martin; von der Hagen, Maja; Kaindl, Angela M.: Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal Muscular Atrophy

Original Article

Leppich, Katalin; Schneider, Joanna; Eismann, Caroline; Ryczek, Monika; Potratz, Cornelia; Kaindl, Angela M.: Psychosocial and Socioeconomic Factors in Children with Neurofibromatosis Type 1

Publication Date: 26 June 2021

Case Report

Hirota, Yukiho; Minamikawa, Shogo; Ishida, Yusuke; Maruyama, Azusa; Nakagishi, Yasuo: A Case of Influenza Virus-Induced Acute Cerebellitis Treated with Steroid Pulse Therapy

Case Report

Sadanand, Arhanti; Jain, Juhi; Elkins, Kathryn; Bergsagel, Daniel John: Burkitt Lymphoma Presenting as a Paraneoplastic Demyelinating Disorder in a Child

Case Report

Swartwood, Shanna; Nelson, Gary R.; Espinoza, Audie C.: Stroke as Presenting Feature of COVID-19 in a Pediatric Patient

Publication Date: 22 June 2021

Original Article

Ozturker, Zeynep Kayaarasi; Bayar, Sezin Akca; Oto, Sibel; Aksoy, Sibel; Akkoyun, Imren; Sezer, Taner: Clinical Spectrum of Ocular and Visual Dysfunction in Children with Periventricular Leukomalacia: A Need for an Interdisciplinary Approach

Publication Date: 19 June 2021

Case Report

Case Report

Publication Date: 11 June 2021

Case Report

PV, Sripadma; Jain, Rajendra S; Agarwal, Jitesh: Denosumab-Induced Proximal Myopathy in a Child

Publication Date: 01 June 2021

Original Article

Review Article

Patanè, Francesca; Pasquetti, Elisa; Sullo, Federica; Tosto, Monica; Romano, Catia; Salafia, Stefania; Falsaperla, Raffaele: SLC2A1 and Its Related Epileptic Phenotypes

Publication Date: 28 May 2021

Review Article

Praticò, Andrea; Gulizia, Carmela; Gangi, Gloria; Oliva, Claudia; Romano, Catia; Marino, Simona; Polizzi, Agata; Ruggieri, Martino; Falsaperla, Raffaele: SCN8A and Its Related Epileptic Phenotypes

Publication Date: 21 May 2021

Case Report

Jiménez-Legido, María; Soto-Insuga, Víctor; Luján-Bonete, Manuel; Cantarín-Extremera, Verónica; Bernardino-Cuesta, Beatriz; Mansilla-Lozano, David; Leoz-Gordillo, Inés; Rodríguez-Palero, Serafín; Buendía-Martínez, Silvia; Duat-Rodríguez, Anna; Ruíz-Falcó-Rojas, María Luz: Critical Illness Myopathy in a Child with SARS-CoV-2 Infection

Letter to the Editor

Review Article

Di Napoli, Claudia; Gennaro, Alessia; Lupica, Carmelania; Falsaperla, Raffaele; Leonardi, Roberta; Garozzo, Maria Teresa; Polizzi, Agata; Praticò, Andrea D.; Zanghì, Antonio; Ruggieri, Martino: TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype

Review Article

Garozzo, Maria Teresa; Caruso, Daniela; La Mendola, Flavia Maria Consuelo; Di Nora, Alessandra; Romano, Katia; Leonardi, Roberta; Falsaperla, Raffaele; Zanghì, Antonio; Praticò, Andrea D.: SYNGAP1 and Its Related Epileptic Syndromes

Review Article

La Mendola, Flavia Maria Consuelo; Timpanaro, Tiziana; Caruso, Daniela; Garozzo, Maria Teresa; Presti, Santiago; Romano, Catia; Praticò, Elena R.; Lombardo, Giulia; Zanghì, Antonio; Falsaperla, Raffaele: ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Review Article

Massimino, Carmela Rita; Portale, Laura; Sapuppo, Annamaria; Pizzo, Francesco; Sciuto, Laura; Romano, Catia; Salafia, Stefania; Falsaperla, Raffaele: PRRT2 Related Epilepsies: A Gene Review

Review Article

Mazzurco, Marina; Pulvirenti, Giulio; Caccamo, Martina; Presti, Santiago; Soma, Rachele; Salafia, Stefania; Praticò, Elena R.; Filosco, Federica; Falsaperla, Raffaele; Praticò, Andrea D.: PCDH19-Related Epilepsies

Review Article

Motta, Milena; Consentino, Maria Chiara; Fontana, Alessandra; Sciuto, Laura; Falsaperla, Raffaele; Praticò, Elena R.; Salafia, Stefania; Zanghì, Antonio; Praticò, Andrea D.: DNM1 Gene and Its Related Epileptic Phenotypes

Review Article

Pecora, Giulia; Sortino, Vincenzo; Brafa Musicoro, Viviana; Salomone, Giulia; Pizzo, Francesco; Costanza, Giuseppe; Falsaperla, Raffaele; Zanghì, Antonio; Praticò, Andrea D.: FOXG1 Gene and Its Related Phenotypes

Review Article

Pulvirenti, Giulio; Caccamo, Martina; Lo Bianco, Manuela; Mazzurco, Marina; Praticò, Elena R.; Giallongo, Alessandro; Gangi, Gloria; Zanghì, Antonio; Falsaperla, Raffaele: Calcium Channels Genes and Their Epilepsy Phenotypes

Review Article

Sapuppo, Annamaria; Portale, Laura; Massimino, Carmela R.; Presti, Santiago; Tardino, Lucia; Marino, Simona; Polizzi, Agata; Falsaperla, Raffaele; Praticò, Andrea D.: GRIN2A and GRIN2B and Their Related Phenotypes

Review Article

Timpanaro, Tiziana; La Mendola, Flavia; Billone, Sebastiano; Nora, Alessandra Di; Collotta, Ausilia; Sauna, Alessandra; Salafia, Stefania; Falsaperla, Raffaele: TBC1D24 and Its Related Epileptic Encephalopathy

Review Article

Venti, Valeria; Ciccia, Lina; Scalia, Bruna; Sciuto, Laura; Cimino, Carla; Marino, Simona; Praticò, Andrea D.; Falsaperla, Raffaele: KCNT1-Related Epilepsy: A Review

Publication Date: 14 May 2021

Erratum

Praticò, Andrea D.; Falsaperla, Raffaele; Polizzi, Agata; Ruggieri, Martino: Erratum: Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies

Erratum

Praticò, Andrea D.; Giallongo, Alessandro; Arrabito, Marta; D'Amico, Silvia; Gauci, Maria Cristina; Lombardo, Giulia; Polizzi, Agata; Falsaperla, Raffaele; Ruggieri, Martino: Erratum: SCN2A and Its Related Epileptic Phenotypes

Publication Date: 14 April 2021

Review Article

Patanè, Francesca; Pasquetti, Elisa; Sullo, Federica; Tosto, Monica; Sciuto, Laura; Garozzo, Maria Teresa; Praticò, Elena R.; Falsaperla, Raffaele: SLC25A22 and Its Related Epileptic Encephalopathies

Publication Date: 13 April 2021

Original Article

Review Article

Brafa Musicoro, Viviana; Sortino, Vincenzo; Pecora, Giulia; Tosto, Monica; Lo Bianco, Manuela; Soma, Rachele; Romano, Catia; Falsaperla, Raffaele; Praticò, Andrea D.: Gamma-Aminobutyric Acid Type A Receptor Genes and Their Related Epilepsies

Review Article

Ciccia, Lina Maria; Scalia, Bruna; Venti, Valeria; Pizzo, Francesco; Pappalardo, Maria Grazia; La Mendola, Flavia Maria Consuelo; Falsaperla, Raffaele; Praticò, Andrea D.: CDKL5 Gene: Beyond Rett Syndrome

Review Article

Filosco, Federica; Billone, Sebastiano; Collotta, Ausilia; Timpanaro, Tiziana; Tosto, Monica; Falsaperla, Raffaele; Marino, Silvia; Zanghì, Antonio; Praticò, Andrea D.: WDR45 Gene and Its Role in Pediatric Epilepsies

Review Article

Fontana, Alessandra; Consentino, Maria Chiara; Motta, Milena; Costanza, Giuseppe; Lo Bianco, Manuela; Marino, Simona; Falsaperla, Raffaele; Praticò, Andrea D.: Syntaxin Binding Protein 1 Related Epilepsies

Review Article

Pasquetti, Elisa; Lo Bianco, Manuela; Sullo, Federica; Patanè, Francesca; Sciuto, Laura; Polizzi, Agata; Praticò, Andrea D.; Zanghì, Antonio; Falsaperla, Raffaele: SCN1B Gene: A Close Relative to SCN1A

Review Article

Portale, Anna; Comella, Mattia; Salomone, Giulia; Di Nora, Alessandra; Marino, Lidia; Leonardi, Roberta; Praticò, Andrea D.; Falsaperla, Raffaele: The Spectrum of KCNQ2- and KCNQ3-Related Epilepsy

Review Article

Praticò, Andrea D.; Falsaperla, Raffaele; Polizzi, Agata; Ruggieri, Martino: Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies

Review Article

Salomone, Giulia; Comella, Mattia; Portale, Anna; Pecora, Giulia; Costanza, Giuseppe; Lo Bianco, Manuela; Sciuto, Sarah; Praticò, Elena R.; Falsaperla, Raffaele: The Spectrum of DEPDC5-Related Epilepsy

Review Article

Sauna, Alessandra; Sciuto, Laura; Criscione, Roberta; Messina, Giulia; Presti, Santiago; Soma, Rachele; Oliva, Claudia; Salafia, Stefania; Falsaperla, Raffaele: MECP2-Related Disorders and Epilepsy Phenotypes

Review Article

Scalia, Bruna; Venti, Valeria; Ciccia, Lina M.; Criscione, Roberta; Lo Bianco, Manuela; Sciuto, Laura; Falsaperla, Raffaele; Zanghì, Antonio; Praticò, Andrea D.: Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations

Review Article

Sullo, Federica; Pasquetti, Elisa; Patanè, Francesca; Lo Bianco, Manuela; Marino, Simona D.; Polizzi, Agata; Falsaperla, Raffaele; Ruggieri, Martino; Zanghì, Antonio; Praticò, Andrea D.: SCN1A and Its Related Epileptic Phenotypes

Publication Date: 12 April 2021

Case Report

Hess, Valentin; Zhu, François; Miguel, Justine; Girard, Florent; Toussaint, Marie; Klein, Olivier; Anxionnat, René; Wiedemann, Arnaud: Vasodilator-Stimulated Phosphoprotein to Monitor Clopidogrel Posology in a 7-Year-Old Child Stented for a Post-Traumatic Intracranial Internal Carotid Artery Aneurysm

Publication Date: 27 March 2021

Case Report

Review Article

Praticò, Andrea D.; Giallongo, Alessandro; Arrabito, Marta; D'Amico, Silvia; Gauci, Maria Cristina; Lombardo, Giulia; Polizzi, Agata; Falsaperla, Raffaele; Ruggieri, Martino: SCN2A and Its Related Epileptic Phenotypes

Publication Date: 22 March 2021

Original Article

Yaşar, Burak; Atıcı, Emine; Razaei, Derya Azim; Saldıran, Tülay Çevik: Effectiveness of Robot-Assisted Gait Training on Functional Skills in Children with Cerebral Palsy

Publication Date: 16 March 2021

Case Report

Albamonte, Emilio; Barp, Andrea; Duga, Valentina; Carraro, Elena; Passarini, Alice; Bergamoni, Stefania; Maggi, Lorenzo; Sansone, Valeria Ada: Sporadic Hemiplegic Migraine Type 1 and Congenital Ataxia due to a Single Amino Acid Deletion (ΔF1502) in CACNA1A: A Challenging Diagnosis

Case Report

Denny, Vanessa; Shalev, Davina; Dastgir, Jahannaz; Johnson, Erin; Escobar, Maria; Bernardita Gamallo, Ma; Wynne, Peter; Fried, Arno: Acute Paradoxical Herniation: A Case Report

Review Article

Al-Mirza, Abdulrahman; Al-Taei, Omar; Al-Saadi, Tariq: Cognitive Deficits in Pediatric Craniopharyngioma: An Updated Review

Publication Date: 19 February 2021

Case Report

Hardy, Duriel; Gentile, Carlyn Patterson; Beslow, Lauren A.; Santi, Mariarita; Agarwal, Sonika: Acute Fulminant Cerebral Edema: A Case Series at a Large Pediatric Tertiary Center

Case Report

Tencer, Jaclyn; Virupakshaiah, Akash; Campbell, Ian M; Zackai, Elaine H.; Zarnow, Deborah; Agarwal, Sonika: A Case of Prenatally Diagnosed Periventricular Nodular Heterotopia in a Surviving Male Patient with FLNA Mutation

Original Article

Publication Date: 17 February 2021

Publication Date: 11 February 2021

Publication Date: 02 February 2021

Publication Date: 19 November 2020

Original Article

Publication Date: 26 October 2020