Channelopathies in human epilepsies

Abstract

Genetic factors play an increasingly recognized role in idiopathic epilepsies. Positional cloning strategies in multigenerational families with autosomal dominant transmission have revealed several genes. Most of epilepsy-genes encode ion channels subunits or receptors for neurotransmitters: voltage-gated potassium channels (KCNQ2, KCNQ3) for benign familial neonatal seizures; voltage-gated sodium channel subunits (SCN1B, SCN1A, SCN2A) in generalized epilepsy with febrile seizures plus (GEFS +), severe myoclonic epilepsy of infancy or Dravet syndrome and benign familial neonatal-infantile seizures; nicotinic acetylcholine receptor subunits (CHRNA4, CHRNA2, CHRNB2) in autosomal dominant nocturnal frontal lobe epilepsy, and GABA A receptor subunits for GEFS+ and autosomal dominant juvenile myoclonic epilepsy.