DOI: 10.1055/s-00000041

Neuropediatrics

eFirst

Publication Date: 24 February 2021

Editorial

Plecko, Barbara: TPK1 Deficiency—A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern

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

Hofmeister, Benedikt; von Stülpnagel, Celina; Betzler, Cornelia; Mari, Francesca; Renieri, Alessandra; Baldassarri, Margherita; Haberlandt, Edda; Jansen, Katrien; Schilling, Stefan; Weber, Peter; Ahlbory, Katja; Tang, Shan; Berweck, Steffen; Kluger, Gerhard: Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects

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

Mastrangelo, Mario; Commone, Chiara; Greco, Carlo; Leuzzi, Vincenzo: TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis

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

Short Communication

Bossi, Grazia; Bruno, Raffaele; Novati, Stefano; Maserati, Roberta; Mussati, Georgia; Gorone, Mariasole Prevedoni; Nepita, Edoardo Vecchio; Regalbuto, Corrado; Gola, Gioia; Simoncelli, Anna Maria; Bruno, Antonella; Musso, Paola; Clerici, Edoardo; Marseglia, Gian Luigi: Cerebral Toxocariasis as a Cause of Epilepsy: A Pediatric Case

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

Short Communication

Orrico, Alfredo; Galli, Lucia; Rossi, Maja; Cortesi, Ambra; Mazzi, Marta; Caterino, Ettore: The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family
Supplementary Material

Publication Date: 22 December 2020

Book Review

Ramantani, Georgia: Pediatric Epilepsy Surgery: Preoperative Assessment and Surgical Treatment

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: 08 December 2020

Review Article

Samanta, Debopam: Recent Advances in the Diagnosis and Treatment of Neonatal Seizures

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: 23 November 2020

Short Communication

Baba, Shimpei; Okanishi, Tohru; Ohsugi, Koichi; Suzumura, Rika; Niimi, Keiko; Shimizu, Sayuri; Sakihama, Hiroshi; Itamura, Shinji; Hirano, Keiko; Nishimura, Mitsuyo; Fujimoto, Ayataka; Enoki, Hideo: Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report
Supplementary Material

Short Communication

Rüsch, Christina T.; Wortmann, Saskia B.; Kovacs-Nagy, Reka; Grehten, Patrice; Häberle, Johannes; Latal, Beatrice; Stettner, Georg M.: Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder

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

Letter to the Editor

Vetri, Luigi; Calì, Francesco; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio: Letter to the Editor Regarding the Article “Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy”

Original Article

Sharawat, Indar Kumar; Panda, Prateek Kumar; Dawman, Lesa: Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature
Supplementary Material

Original Article

Valluzzi, Adelaide; Donatiello, Salvatore; Gallo, Graziana; Cellini, Monica; Maiorana, Antonino; Spina, Vincenzo; Pavesi, Giacomo: Osteoid Osteoma of the Atlas in a Boy: Clinical and Imaging Features–A Case Report and Review of the Literature

Original Article

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

Publication Date: 22 October 2020

Original Article

Tanous, Osama; Watad, Mohamad; Felszer-Fisch, Clari; Peniakov, Marina; Miron, Dan; Salim, Raed: Risk Factors for Mortality among Newborns with Neonatal Seizures
Supplementary Material

Publication Date: 21 October 2020

Original Article

Willimsky, Eva-Katharina; Munzig, Anna; Mayer, Karin; Biskup, Saskia; Abicht, Angela; Hoertnagel, Konstanze; Voss, Hubertus von; Klein, Hanns-Georg; Rost, Imma; Larsen, Line H.G.; Dahl, Hanns Atli; Hoelz, Hannes; Stuelpnagel, Celina von; Borggraefe, Ingo: Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters

Short Communication

Eckenweiler, Matthias; Mayr, Johannes A.; Grünert, Sarah; Abicht, Angela; Korinthenberg, Rudolf: Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

Publication Date: 16 October 2020

Letter to Editor

Algahtani, Hussein; Shirah, Bader; Daghistani, Mustafa; Al-Qahtani, Mohammad H.; Abdulkareem, Angham Abdulrahman; Naseer, Muhammad Imran: A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures