Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.
Knox AT et al.
Annals of Clinical and Translational Neurology, 2025
Association of SCN1A Gene Polymorphisms with Sodium Valproate Resistance in Pediatric Epilepsy: A Retrospective Case-Control Study.
Wang H et al.
Neuropsychiatric Disease and Treatment, 2025
Characteristic spatial and frequency distribution of mutations in SCN1A.
Zhang M et al.
Acta Epileptologica, 2024
A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
Murthy MC et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience.
Maruthi G et al.
Indian Pediatrics, 2023
Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
Fang H et al.
Frontiers in Neurology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.
Gertler TS et al.
Seizure, 2020
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Y et al.
Data in Brief, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
Usluer S et al.
Seizure, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry AE et al.
Bmc Medical Genetics, 2016
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
Xu X et al.
Brain & Development, 2014
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
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
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