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Am J Hum Genet
2001 Jan 01;681:225-31. doi: 10.1086/316946.
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CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
Phillips HA
,
Favre I
,
Kirkpatrick M
,
Zuberi SM
,
Goudie D
,
Heron SE
,
Scheffer IE
,
Sutherland GR
,
Berkovic SF
,
Bertrand D
,
Mulley JC
.
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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. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.
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