DOI: 10.1055/s-00000041

Neuropediatrics

eFirst

Publication Date: 14 April 2021

Book Review

Boltshauser, Eugen: Fragile X Syndrome and Premutation Disorders

Original Article

Matos, Marília Barbosa de; Bara, Tiago S.; Felden, Érico P. G.; Cordeiro, Mara L.: Potential Risk Factors for Autism in Children Requiring Neonatal Intensive Care Unit

Short Communication

Al-Saady, Murtadha L.; Kaiser, Charlotte S.; Wakasuqui, Felipe; Korenke, G. Christoph; Waisfisz, Quinten; Polstra, Abeltje; Pouwels, Petra J. W.; Bugiani, Marianna; van der Knaap, Marjo S.; Lunsing, Roelineke J.; Liebau, Eva; Wolf, Nicole I.: Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Short Communication

Ciaccio, Claudia; Leonardi, Emanuela; Polli, Roberta; Murgia, Alessandra; D'Arrigo, Stefano; Granocchio, Elisa; Chiapparini, Luisa; Pantaleoni, Chiara; Esposito, Silvia: A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
Supplementary Material

Short Communication

Siddiqui, Ayat; McGregor, Amy L.; Wheless, James W.; Klimo, Paul; Boop, Frederick A.; Khan, Raja B.: Utility of Epilepsy Surgery in Survivors of Childhood Cancer

Publication Date: 31 March 2021

Original Article

Gburek-Augustat, Janina; Schoene-Bake, Jan-Christoph; Bültmann, Eva; Haack, Tobias; Buchert, Rebecca; Synofzik, Matthis; Biskup, Saskia; Feuerhake, Friedrich; Sorge, Ina; Hartmann, Hans: Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
Supplementary Material

Short Communication

Yazbeck, Elise; Maurey, Hélène; Leroy, Carole; Horellou, Philippe; Napuri, Silvia; Lali, Mohammed; Adam, Clovis; Husson, Beatrice; Sevin, Caroline; Deiva, Kumaran: Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype

Publication Date: 11 March 2021

Original Article

Blaschek, Astrid; Rodrigues, Martin; Rawer, Rainer; Müller, Christine; Ille, Lena; Schröder, Sebastian; Idriess, Mohamed; Müller-Felber, Wolfgang; Vill, Katharina: Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy
Supplementary Material

Original Article

Hoei-Hansen, Christina E.; Tygesen, Marie L. B.; Dunø, Morten; Vissing, John; Ballegaard, Martin; Born, Alfred P.: Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children
Supplementary Material

Original Article

O'Sullivan, Marc Paul; Denihan, Niamh; Sikora, Klaudia; Finder, Mikael; Ahearne, Caroline; Clarke, Gerard; Hallberg, Boubou; Boylan, Geraldine B.; Murray, Deirdre M.: Activin A and Acvr2b mRNA from Umbilical Cord Blood Are Not Reliable Markers of Mild or Moderate Neonatal Hypoxic–Ischemic Encephalopathy

Original Article

Valkama, A. Marita; Rytky, Seppo O.; Olsén, Päivi M.: Bilateral Motor Responses to Transcranial Magnetic Stimulation in Preterm Children at 9 Years of Age

Publication Date: 03 March 2021

Original Article

Hedrera-Fernandez, Antonio; Cancho-Candela, Ramon; Arribas-Arceredillo, Marta; Garrido-Barbero, Maria; Conejo-Moreno, David; Sariego-Jamardo, Andrea; Perez-Poyato, Maria Socorro; Rodriguez-Fernandez, Cristina; del Villar-Guerra, Pablo; Bermejo-Arnedo, Ignacio; Peña-Valenceja, Alfonso; Maldonado-Ruiz, Esther; Ortiz-Madinaveitia, Saturnino; Camina-Gutierrez, Ana Belen; Blanco-Lago, Raquel; Malaga, Ignacio: Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study
Supplementary Material

Short Communication

Pavone, Piero; Sullo, Federica; Falsaperla, Raffaele; Greco, Filippo; Crespo, Agustina; Calvo, Agustin; Caraballo, Roberto: Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment

Publication Date: 23 February 2021

Original Article

Sadek, Abdelrahim A.; Aladawy, Mohammed A.; Magdy, Rofaida M.; Mansour, Tarek M. M.; Othman, Amr A.; Hawary, Bahaa; Ibrahim, Mohamed F.; Hassan, Mohammed H.; Abdelkreem, Elsayed: Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1
Supplementary Material

Publication Date: 12 February 2021

Images in Neuropediatrics

Calame, Daniel G.; Herman, Isabella; Bartlett, Brittnie; Agurs, Latanya; Tran, Brandon H.; Houck, Kimberly: Apneic Seizures in a Child with Achondroplasia

Original Article

Cengiz, Ali Bülent; Günbey, Ceren; Ceyhan, Mehmet; Korukluoğlu, Gülay; Tanır Başaranoğlu, Sevgen; Eroğlu Ertuğrul, Nesibe Gevher; Coşgun, Yasemin; Konuşkan, Bahadır; Özsürekci, Yasemin; Anlar, Banu: Etiological and Clinical Profile of Acute Nonbacterial Encephalitis in Children: A Single-Center Prospective Study

Original Article

Kılavuz, Sebile; Bulut, Derya; Kor, Deniz; Şeker-Yılmaz, Berna; Özcan, Neslihan; Incecik, Faruk; Onan, Bilen; Ceylaner, Gülay; Önenli-Mungan, Neslihan: The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Original Article

Majorel-Beraud, C.; Baudou, E.; Walther-Louvier, U.; Espil-Taris, C.; Beze-Beyrie, P.; Cintas, P.; Rivier, F.; Cances, C.: Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A

Short Communication

Becker, Lena-Luise; Weiß, Claudia; Tietze, Anna; Martiny, Viktoria; Kaindl, Angela M.: Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy
Supplementary Material

Short Communication

Tan, Alexander; Marcus, David J.; Howarth, Robyn A.; Gombolay, Grace Y.: Neuropsychological Phenotypes of Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Associated Disorders: A Case Series

Short Communication

Tokatly Latzer, Itay; Sagi, Liora; Bali, Deeksha Sarihyan; Rehder, Catherine; Orbach, Rotem; Fattal-Valevski, Aviva: Variable Genotype–Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene

Publication Date: 28 January 2021

Images in Neuropediatrics

Bölsterli, Bigna K.; Steindl, Katharina; Kottke, Raimund; Steinfeld, Robert; Boltshauser, Eugen: Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1

Letter to Editor

McGinn, Elizabeth A.; Lyden, Elizabeth; Peeples, Eric S.: Reply to: The Severity of Neuronal Damage in Neonatal Hypoxic-Ischemic Encephalopathy: Does Vitamin D Status Matter?

Letter to Editor

Panda, Prateek K.; Sharawat, Indar K.: The Severity of Neuronal Damage in Neonatal Hypoxic–Ischemic Encephalopathy: Does Vitamin-D Status Matter?

Original Article

Rauchenzauner, M.; Schiller, K.; Honold, M.; Baldissera, I.; Biedermann, R.; Tschiderer, B.; Albrecht, U.; Arnold, C.; Rostasy, K.: Visual Impairment and Functional Classification in Children with Cerebral Palsy

Original Article

Siegert, Sandy; Schmidt, Wolfgang M.; Pletschko, Thomas; Bittner, Reginald E.; Gobara, Sonja; Freilinger, Michael: Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition

Short Communication

Pro, Stefano; Ursitti, Fabiana; Pruneddu, Gian Luca; Di Capua, Matteo; Valeriani, Massimiliano: Childhood-Onset Multifocal Motor Neuropathy with IgM Antibodies to Gangliosides GM1: A Case Report with Poor Outcome

Short Communication

Toledo-Gotor, Cristina; Gorría, Nerea; Oscoz, Miren; Llano, Katia; Rodríguez-de, Pablo la Fuente; Aguilera-Albesa, Sergio: Posttraumatic Delayed Jugular Foramen Syndrome in a Toddler

Publication Date: 27 January 2021

Short Communication

Spitz, Marie-Aude; Lenaers, Guy; Charif, Majida; Wirth, Thomas; Chelly, Jameleddine; Abi-Warde, Marie-Thérèse; Meyer, Pierre; Leboucq, Nicolas; Schaefer, Elise; Anheim, Mathieu; Roubertie, Agathe: Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency

Publication Date: 20 January 2021

Book Review

Müller-Felber, Wolfgang: Myasthenia in Children

Video in Neuropediatrics

Al-Sibahee, Essam; Magdal, Haqi: Palatal Tremor in a 16-Year-Old Female

Publication Date: 14 January 2021

Book Review

Kuenzle, Christoph: Participation: Optimising Outcomes in Childhood-Onset Neurodisability (Clinics in Developmental Medicine)

Images in Neuropediatrics

East, James E.; Soares, Bruno P.: Neurocutaneous Melanosis: Prenatal Presentation as a Posterior Fossa Cyst

Original Article

Gavazzi, Francesco; Cross, Zachary M.; Woidill, Sarah; McMann, Joseph M.; Rand, Elizabeth B.; Takanohashi, Asako; Ulrick, Nicole; Shults, Justine; Vanderver, Adeline L.; Adang, Laura: Hepatic Involvement in Aicardi-Goutières Syndrome

Original Article

Kaczyńska, Justyna; Janik, Piotr: Tonic Tics in Gilles de la Tourette Syndrome

Original Article

Ko, Pin-Yi; Glass, Ian A.; Crandall, Suzanne; Weiss, Avery; Dorschner, Michael O.; Kelly, John P.; Phillips, James O.; Lopez, Jonathan: Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features

Review Article

Vogt, Carsten: Clinical Conundrums When Integrating the QbTest into a Standard ADHD Assessment of Children and Young People

Short Communication

Becker, Johanna; Haas, Nikolaus A.; Vlaho, Stefan; Heineking, Beatrice; Wortmann, Saskia B.; Rabenhorst, Dorothée; Thomas, Clara; Brunet, Theresa: Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death
Supplementary Material

Videos and Images in Neuropediatrics

Barrea, Christophe; Depierreux, Frederique: Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies

Publication Date: 29 December 2020

Short Communication

Nosadini, Margherita; D'Onofrio, Gianluca; Pelizza, Maria Federica; Luisi, Concetta; Padrin, Davide; Baggio, Laura; Zorzi, Giovanna Simonetta; Toldo, Irene; Sartori, Stefano: Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias

Publication Date: 22 December 2020

Original Article

Bertoncelli, Carlo M.; Altamura, Paola; Bertoncelli, Domenico; Rampal, Virginie; Vieira, Edgar Ramos; Solla, Federico: PredictMed: A Machine Learning Model for Identifying Risk Factors of Neuromuscular Hip Dysplasia: A Multicenter Descriptive Study
Supplementary Material

Short Communication

Mroczek, Magdalena; Zafeiriou, Dimitrios; Gurgel-Gianetti, Juliana; Vilela Morais de Azevedo, Beatriz; Roos, Andreas; Bartels, Enrika; Kohlschmidt, Nicolai; Phadke, Rahul; Feng, Lucy; Duff, Jennifer; Töpf, Ana; Straub, Volker: Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

Publication Date: 14 December 2020

Original Article

van Steenis, A.; Fumagalli, M.; Kruit, M. C.; Peeters-Scholte, C. M. P. C. D.; de Vries, L. S.; Steggerda, S. J.: Cranial Ultrasound Is an Important Tool in the Recognition of Life-Threatening Infratentorial Hemorrhage in Newborns

Short Communication

Lin, Jenny; Gadde, Judith A.; Flanagan, Elaine; Gombolay, Grace: A Presentation of Pediatric Sjögren's Syndrome with Abducens Nerve Palsy

Publication Date: 04 December 2020

Original Article

Johannsen, Jessika; Weiss, Deike; Schlenker, Friderike; Groth, Michael; Denecke, Jonas: Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

Publication Date: 03 December 2020

Original Article

Abdel-Salam, Ghada M. H.; Abdel-Hamid, Mohamed S.: Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency

Publication Date: 27 October 2020

Images in Neuropediatrics

Karlin, Alexis; Vossough, Arastoo; Agarwal, Sonika; Jacobwitz, Marin N.; Virupakshaiah, Akash; Beslow, Lauren A.: Spinal Cord Infarct Due to Fibrocartilaginous Embolism

Original Article

van Dijk, Tessa; Barth, Peter; Baas, Frank; Reneman, Liesbeth; Poll-The, Bwee Tien: Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia
Supplementary Material