Literature associating SCN8A and early infantile epileptic encephalopathy 14
Sodium channel, voltage gated, type VIII, alpha subunit; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily.
Synonyms: SCN8A, SCN8Ap, hSCN8A, F8VRN5, F8VWM7 ...