The sodium channel a1 subunit (SCN1A)-related epileptic phenotypes

Voltage-gated sodium channels (Nav) are neuronal channels responsible for action potential initiation. Any alteration of the kinetics that determine the gating of these channels can have impact on cellular excitability. Abnormal Nav1.1, one of the five isoforms present in the nervous system, and encoded by the sodium channel α1 subunit (SCN1A) gene, has been associated with a wide spectrum of epileptic phenotypes clinically ranging from extremely benign to very severe forms. Most of these forms share febrile seizures as main or presenting seizures type. In this review the authors summarize the SCN1A-related epileptic phenotypes discovered to date together with the main underlying genetic mechanisms.