Article
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
American journal of human genetics - 1 Jan 2001
Phillips H A, Favre I, Kirkpatrick M, Zuberi S M, Goudie D, Heron S E, Scheffer I E, Sutherland G R, Berkovic S F, Bertrand D, Mulley J C
Abstract excerpt
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family....
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