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scn1a
SCN1A
SCN1A encodes Nav1.1 (voltage-gated sodium channel, GABAergic interneurons); loss-of-function causes Dravet syndrome with fever-sensitive tonic-clonic and myoclonic seizures; sodium channel blockers worsen Dravet; fenfluramine and cannabidiol are FDA-approved for Dravet.
Entry Metadata
| Field | Value |
|---|---|
| ID | scn1a |
| Name | SCN1A |
| Status | draft |
| Last reviewed | 2026-06-08 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68(6):1327-1332. · PubMed 11359211
- Ogiwara I, Miyamoto H, Morita N, et al. Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci. 2007;27(22):5903-5914. · PubMed 17537961
- Wirrell EC, Hood V, Knupp KG, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia. 2022;63(7):1761-1777. · PubMed 35522095