CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures oc curring in sleep. We describe a mutation of the beta2 subunit of the nicoti nic acetylcholine receptor, effecting a V287M substitution within the M2 do main. The mutation, in an evolutionary conserved region of CHRNB2, is assoc iated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an s imilar to 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new ge ne for idiopathic epilepsy, the second acetylcholine receptor subunit impli cated in ADNFLE.