SCN8A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SCN8A wild-type allele is located in the vicinity of 12q13.13 and is approximately 223 kb in length. This allele, which encodes sodium channel protein type 8 subunit alpha protein, may play a role in both neuronal excitation and macrophage migration. Mutation of the gene is associated with familial myoclonus 2, developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 and cognitive impairment with or without cerebellar ataxia.

**Synonyms:** - BFIS5 - CERIII - CIAT - CerIII - DEE13 - EIEE13 - HNa6/Scn8a Voltage-Gated Sodium Channel Gene - MED - MYOCL2 - NaCh6 - Nav1.6 - PN4 - Sodium Channel Protein Type VIII Subunit Alpha Gene - Sodium Channel, Voltage Gated, Type VIII Alpha Subunit Gene - Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide Gene - Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit Gene - Sodium Channel, Voltage-Gated, Type VIII, Alpha Subunit Gene - Sodium Voltage-Gated Channel Alpha Subunit 8 wt Allele - Sodium Voltage-Gated Channel, Alpha Subunit 8 Gene - Voltage-Gated Sodium Channel Type VIII Alpha Protein Gene