SCN1A

1 article(s) in the watch · Constitutional genetics

SCN1A encodes a neuronal sodium-channel subunit. Loss-of-function variants cause Dravet syndrome and other epilepsies.

InheritanceDominant, usually de novo

Clinical spectrumDravet syndrome, genetic epilepsies (GEFS+)

ManagementAvoid sodium-channel blockers; tailored therapy (stiripentol, cannabidiol, fenfluramine).

Curated publications

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel

Sodium channel-related epilepsies (SCN1A/Dravet, SCN2A, SCN3A, SCN8A, SCN1B)