Associated Papers
Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.
Zhou Z et al.
Seizure, 2023
Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.
Ashfaq A et al.
Genetics Research, 2022
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.
Maeda H et al.
Journal of Human Genetics, 2016
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy.
Morimoto M et al.
Epilepsia, 2006
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