Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.
Stawicka E et al.
Current Issues in Molecular Biology, 2024
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH et al.
Brain : a Journal of Neurology, 2023
An in silico and in vitro human neuronal network model reveals cellular mechanisms beyond NaV1.1 underlying Dravet syndrome.
Doorn N et al.
Stem Cell Reports, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Chen C et al.
Frontiers in Molecular Neuroscience, 2022
Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.
Li W et al.
Epilepsia, 2021
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V et al.
The Turkish Journal of Pediatrics, 2020
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
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical Genetics, 2018
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.
Cho MJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Electroencephalographic features of patients with SCN1A-positive Dravet syndrome.
Lee HF et al.
Brain & Development, 2015
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Ohmori I et al.
Neurobiology of Disease, 2013
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
Verbeek NE et al.
Plos One, 2013
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 2010
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
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
Sun H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].
Zhang YH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Kanai K et al.
Neurology, 2004