Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).
Mutation analysis of families with rolandic epilepsy without neonatal seizures discovered three novel missense variations (KCNQ2p.Ile592Met, KCNQ3 p.Ala381Val, KCNQ3 p.Pro574Ser).