Associated Papers
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
39932319 (PubMed )
Supplement: EPI-66-e66-s002.xlsx › Supplementary_Data_1
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes.
Ma R et al.
Frontiers in Molecular Neuroscience, 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
SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.
Kivity S et al.
Epilepsy Research, 2017
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C et al.
Journal of Medical Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
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