Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Am J Hum Genet
2001 Jan 01;681:225-31. doi: 10.1086/316946.
Show Gene links
Show Anatomy links
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
.
???displayArticle.abstract???
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.
Anand,
Neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes have a pentameric quaternary structure.
1991, Pubmed,
Xenbase
Anand,
Neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes have a pentameric quaternary structure.
1991,
Pubmed
,
Xenbase
Bertrand,
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy.
1998,
Pubmed
,
Xenbase
Cooper,
Pentameric structure and subunit stoichiometry of a neuronal nicotinic acetylcholine receptor.
1991,
Pubmed
Covernton,
Multiple components in the agonist concentration-response relationships of neuronal nicotinic acetylcholine receptors.
2000,
Pubmed
,
Xenbase
De Fusco,
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
2000,
Pubmed
Devillers-Thiéry,
Functional architecture of the nicotinic acetylcholine receptor: a prototype of ligand-gated ion channels.
1993,
Pubmed
Hirose,
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
1999,
Pubmed
Kuryatov,
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors.
1997,
Pubmed
,
Xenbase
Monteggia,
Cloning and transient expression of genes encoding the human alpha 4 and beta 2 neuronal nicotinic acetylcholine receptor (nAChR) subunits.
1995,
Pubmed
Nelson,
A general method of site-specific mutagenesis using a modification of the Thermus aquaticus polymerase chain reaction.
1989,
Pubmed
Oldani,
Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.
1998,
Pubmed
Phillips,
A de novo mutation in sporadic nocturnal frontal lobe epilepsy.
2000,
Pubmed
Phillips,
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
1998,
Pubmed
Rempel,
The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3).
1998,
Pubmed
Scheffer,
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.
1995,
Pubmed
Steinlein,
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.
2000,
Pubmed
Steinlein,
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
1995,
Pubmed
Steinlein,
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.
1997,
Pubmed
Sáenz,
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.
1999,
Pubmed
Weiland,
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics.
1996,
Pubmed
,
Xenbase
Willoughby,
Molecular cloning of a human neuronal nicotinic acetylcholine receptor beta 3-like subunit.
1993,
Pubmed
