Associated Papers
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.
Lilles S et al.
Pediatric Reports, 2026
41563000 (PubMed )
Supplement: pediatrrep-18-00008-s001.zip › pediatrrep-3981509-supplementary.pdf
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars
Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.
Zhang MJ et al.
World Journal of Pediatrics : Wjp, 2025
The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome.
Zhang MJ et al.
Frontiers in Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars
SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature : For the China Epilepsy Gene 1.0 Project.
Zhang D et al.
Acta Epileptologica, 2024
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC et al.
Molecular Neurobiology, 2024
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.
Winczewska-Wiktor A et al.
Epilepsy & Behavior : E&b, 2020
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Sanchis-Juan A et al.
Frontiers in Genetics, 2019
31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
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