Associated Papers
Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.
Zhou Z et al.
Seizure, 2023
Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.
Zayat V et al.
Cells, 2022
Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.
Ashfaq A et al.
Genetics Research, 2022
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
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
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2010
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy.
Morimoto M et al.
Epilepsia, 2006
Select a paper to view details