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
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
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T et al.
Molecular Genetics & Genomic Medicine, 2016
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL et al.
Neurology, 2014
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM et al.
Epilepsia, 2006
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