DOI: 10.1055/s-00000041

Neuropediatrics

eFirst

Publikationsdatum: 09 April 2024

Videos and Images in Neuropediatrics

Nenadic-Baranasic, Natasa; Nemir, Jakob; Borovecki, Fran; Njiric, Niko; Lehman, Ivan: Deep Brain Stimulation in a 10-Year-Old Child with Pantothenate Kinase-associated Neurodegeneration

Publikationsdatum: 08 April 2024

Original Article

Kutlutürk Yıkılmaz, Seval; Tanrıverdi, Müberra; Öktem, Sedat: Reliability and Validity of the Turkish Translation of the PedsQL™ 3.0 Neuromuscular Module for 2-to 4-Year-Olds in Spinal Muscular Atrophy

Publikationsdatum: 28 März 2024

Short Communication

Jacob, Maureen; Brugger, Melanie; Andres, Stephanie; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Tilch, Erik; Pavlov, Martin; Mayerhanser, Katharina; Hoefele, Julia; Meitinger, Thomas; Winkelmann, Juliane; Brunet, Theresa: Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
Supplementary Material

Videos and Images in Neuropediatrics

Asakura, Mari; Ogasawara, Masashi; Igarashi, Mizuho; Takeshima, Keigo; Fukao, Eri; Ikuta, Yoji: Pediatric Tolosa–Hunt Syndrome with Ptosis and Transient Periorbital Headache

Publikationsdatum: 26 März 2024

Review Article

Almomen, Momen; Burgon, Patrick G.: Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

Review Article

Kalampokini, Stefania; Xiromerisiou, Georgia; Bargiotas, Panagiotis; Anastasiadou, Violetta Christophidou; Costeas, Paul; Hadjigeorgiou, Georgios M.: PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases

Short Communication

Yıldırım, Miraç; Yarenci, Gülçin Bilicen; Genç, Mustafa Berk; Uçar, Çiğdem İlter; Bayav, Secahattin; Tekin, Merve Nur; Bektaş, Ömer; Teber, Serap: VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review

Publikationsdatum: 06 März 2024

Original Article

Gerstner, Thorsten; Henning, Oliver; Løhaugen, Gro; Skranes, Jon: Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)—A Quantitative EEG Study

Short Communication

Kahl, Niklas; Lüsebrink, Natalia; Schubert-Bast, Susanne; Freiman, Thomas M.; Kieslich, Matthias: Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review
Supplementary Material

Publikationsdatum: 16 Februar 2024

Review Article

Öz Yıldız, Sibel; Yalnızoğlu, Dilek; Şimsek Kiper, Pelin Özlem; Göçmen, Rahşan; Soğukpınar, Merve; Utine, Gülen Eda; Haliloğlu, Göknur: Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Supplementary Material

Short Communication

Almomen, Momen; Amer, Fawzia; Alfaraj, Fatima; Burgon, Patrick G.; Bashir, Shahid; Alghamdi, Fouad: STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients

Publikationsdatum: 14 Februar 2024

Short Communication

Gebert, Johannes; Brunet, Theresa; Wagner, Matias; Rath, Jakob; Aull-Watschinger, Susanne; Pataraia, Ekaterina; Krenn, Martin: A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism

Publikationsdatum: 05 Februar 2024

Videos and Images in Neuropediatrics

Zaddach, Malin; Wagner, Johanna; Kunz, Mathias; Paolini, Marco; Borggraefe, Ingo; Heinen, Florian: Colloid Cyst Causing Massive Headache Attacks

Publikationsdatum: 02 Februar 2024

Short Communication

Franquelim, Catarina; Romana, Andreia; Rachão, Augusto; Martins, Joana Sousa; Monteiro, José Paulo; Carvalho, João: Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation

Publikationsdatum: 30 Januar 2024

Short Communication

Fearns, Nicholas; Wagner, Matias; Borggräfe, Ingo; Kunz, Mathias; Rémi, Jan; Vollmar, Christian: Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation

Publikationsdatum: 24 Januar 2024

Original Article

Kim, Jon Soo; Woo, Hyewon; Lee, Jae Hee; Kim, Won Seop: Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom

Original Article

Pais-Cunha, Inês; Almeida, Ana I.; Curval, Ana R.; Fonseca, Jacinta; Melo, Cláudia; Sampaio, Mafalda; Sousa, Raquel: Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis

Publikationsdatum: 28 Dezember 2023

Original Article

Gao, Xin; Xin, Guoyan; Tu, Ya; Liang, Xiaoping; Yang, Huimin; Meng, Hong; Wang, Yumin: TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review

Publikationsdatum: 13 November 2023

Editorial

Rostasy, Kevin: 48th Annual Conference of the German Neuropediatric Society (GNP) and 19th GNP Training Course Academy

Publikationsdatum: 29 Oktober 2023

Videos and Images in Neuropediatrics

Freitas, Leonardo Furtado; Miranda, Eduardo Carvalho; Amaro, Aline Pimentel; Narvaez, Eduardo de Oliveira; Duarte, Márcio Luís: Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome
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