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)

How is a SCN1A-related condition inherited?+

Dominant, usually de novo

What is the clinical spectrum associated with SCN1A?+

Dravet syndrome, genetic epilepsies (GEFS+)

What is the management associated with SCN1A?+

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

How many Geno'X publications cover the SCN1A gene?+

1 publication(s) on SCN1A have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).