SCN1A
HGNC ↗2 article(s) in the watch · Constitutional genetics · Bioinformatics & AI
SCN1A encodes a neuronal sodium-channel subunit. Loss-of-function variants cause Dravet syndrome and other epilepsies.
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)
From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.
Paediatric-onset epilepsy
Frequently asked questions
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?+
2 publication(s) on SCN1A have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics, Bioinformatics & AI).