Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.
Ouyang X et al.
Frontiers in Genetics, 2025
Characteristic spatial and frequency distribution of mutations in SCN1A.
Zhang M et al.
Acta Epileptologica, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H et al.
Brain : a Journal of Neurology, 2023
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies.
Negi S et al.
The Lancet Regional Health. Southeast Asia, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.
Türkyılmaz A et al.
Molecular Syndromology, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A et al.
Epilepsia, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V et al.
The Turkish Journal of Pediatrics, 2020
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM et al.
Journal of Medical Genetics, 2019
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.
Alame S et al.
Case Reports in Medicine, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Dysarthria and broader motor speech deficits in Dravet syndrome.
Turner SJ et al.
Neurology, 2017
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Xu X et al.
Human Mutation, 2015
Electroencephalographic features of patients with SCN1A-positive Dravet syndrome.
Lee HF et al.
Brain & Development, 2015
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ et al.
Molecular Neurobiology, 2015
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Volkers L et al.
The European Journal of Neuroscience, 2011
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients.
Korff C et al.
Journal of Child Neurology, 2007
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA et al.
Pediatric Neurology, 2006
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Kanai K et al.
Neurology, 2004