title: CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
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.
authors: Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
authors: H A
authors: HA
authors: Phillips
authors: I
authors: I
authors: Favre
authors: M
authors: M
authors: Kirkpatrick
authors: S M
authors: SM
authors: Zuberi
authors: D
authors: D
authors: Goudie
authors: S E
authors: SE
authors: Heron
authors: I E
authors: IE
authors: Scheffer
authors: G R
authors: GR
authors: Sutherland
authors: S F
authors: SF
authors: Berkovic
authors: D
authors: D
authors: Bertrand
authors: J C
authors: JC
authors: Mulley
mesh_terms: D000109:Acetylcholine / Q000494:pharmacology; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002648:Child; D017124:Conserved Sequence; D004553:Electric Conductivity; D017034:Epilepsy, Frontal Lobe / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009865:Oocytes / Q000187:drug effects / Q000378:metabolism; D010375:Pedigree; D021122:Protein Subunits; D011978:Receptors, Nicotinic / Q000235:genetics* / Q000378:metabolism; D012606:Scotland; D012640:Seizures / Q000235:genetics / Q000503:physiopathology; D012893:Sleep Wake Disorders / Q000235:genetics / Q000503:physiopathology; D014982:Xenopus laevis
chemical_list: D000109:Acetylcholine; D021122:Protein Subunits; D011978:Receptors, Nicotinic