Voltage gated sodium ion channel and epilepsy

Abstract

  Epilepsy is caused by the excessive excitation of neurons due to alterations in the excitation and inhibition balance caused by various factors. Voltage-gated sodium ion (Na＋) channels are responsible for regulating conduction in neurons and play a major role in the development of epilepsy. The genes that code for voltage-gated Na＋ channels, abnormalities of which have been reported in epilepsy patients, include SCN1A, SCN2A, SCN3A and SCN8A. Pathological variants of SCN1A are seen in genetic forms of epilepsy with febrile seizures plus, and variants of SCN2A are seen in benign (familial) neonatal-infantile epilepsy and relatively mild epilepsy. Meanwhile, pathological variants of all of these genes are observed in severe developmental epileptic encephalopathy. Here, abnormalities of these four genes and their phenotypes are described based on the latest findings.