NaV1.1 is a tetrodotoxin-sensitive channel and is broadly expressed in neurons.Mutations in NaV1.1 are associated with at least two forms of epilepsy. Gain-of-function missense mutations are a primary cause of generalized epilepsy with febrile seizures plus (GEFS+). Loss-of-function mutations cause severe myoclonic epilepsy of infancy (SMEI)
