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 sod...[+]

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. [-]

             generalized epilepsy with febrile seizures plus
             obsolete Dravet syndrome
             familial hemiplegic migraine
             infantile epileptic encephalopathy
             generalized epilepsy with febrile seizures plus 1
             generalized epilepsy with febrile seizures plus 2
             Dravet syndrome
             familial hemiplegic migraine 3

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD