Preferred Label : SCN1A wt Allele;
NCIt synonyms : Sodium Voltage-Gated Channel Alpha Subunit 1 wt Allele; SMEI; NAV1.1; EIEE6; NAC1; GEFSP2; FEB3; HBSCI; Sodium Channel, Voltage-Gated, Type I, Alpha Subunit Gene; FHM3; FEB3A; Febrile Convulsions 3 Gene; SCN1; Sodium Channel, Neuronal Type I, Alpha Subunit Gene; Sodium Channel, Brain Type I, Alpha Subunit Gene; Sodium Channel, Voltage Gated, Type I, Alpha Subunit Gene;
NCIt 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.;
GenBank Accession Number : AB093548;
Origin ID : C102448;
UMLS CUI : C3538757;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_plays_role_in_process
