Associated Papers
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Atlı E et al.
Balkan Medical Journal, 2023
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
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C et al.
Journal of Medical Genetics, 2010
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
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