SCN1A wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SCN1A wild-type allele is located in the vicinity of 2q24.3 and is approximately 84 kb in length. This allele, which encodes sodium channel protein type 1 subunit alpha, plays a role in voltage-gated sodium transport. Mutation of the gene is associated with generalized epilepsy with febrile seizures plus type 2, Dravet syndrome, intractable childhood epilepsy with generalized tonic-clonic seizures, familial hemiplegic migraine type 3 and familial febrile convulsions type 3A.
**Synonyms:** - EIEE6 - FEB3 - FEB3A - FHM3 - Febrile Convulsions 3 Gene - GEFSP2 - HBSCI - NAC1 - NAV1.1 - Nav1.1 - SCN1 - SMEI - Sodium Channel, Brain Type I, Alpha Subunit Gene - Sodium Channel, Neuronal Type I, Alpha Subunit Gene - Sodium Channel, Voltage Gated, Type I, Alpha Subunit Gene - Sodium Channel, Voltage-Gated, Type I, Alpha Subunit Gene - Sodium Voltage-Gated Channel Alpha Subunit 1 wt Allele
/api/v1/systems/nci_thesaurus/nodes/C102448Hierarchy Explorer
Cross-system equivalences0
No cross-system equivalences mapped for this node.