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

被引：223

作者：

Phillips, HA

Favre, I

Kirkpatrick, M

Zuberi, SM

Goudie, D

Heron, SE

Scheffer, IE

Sutherland, GR

Berkovic, SF

Bertrand, D

Mulley, JC

机构：

[1] Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, Ctr Genet Med, Adelaide, SA 5006, Australia

[2] Univ Adelaide, Dept Paediat, Adelaide, SA, Australia

[3] Univ Adelaide, Dept Genet, Adelaide, SA, Australia

[4] Univ Geneva, Fac Med, Dept Physiol, Geneva, Switzerland

[5] Tayside Univ Hosp NHS Trust, Ninewells Hosp & Med Sch, Dept Paediat, Dundee, Scotland

[6] Ninewells Hosp, Dundee DD1 9SY, Scotland

[7] Royal Hosp Sick Children, Fraser Allander Neurosci Unit, Glasgow G3 8SJ, Lanark, Scotland

[8] Univ Melbourne, Dept Med Neurol, Parkville, Vic 3052, Australia

[9] Austin & Repatriat Med Ctr, Melbourne, Vic, Australia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 68卷 / 01期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1086/316946

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 similar to 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.

引用

页码：225 / 231

页数：7

共 23 条

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