Health / Medical Topics

    SCN1A wt Allele

    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. (NCI Thesaurus)




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