CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
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.
Phillips
H A
HA
Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
Favre
I
I
Kirkpatrick
M
M
Zuberi
S M
SM
Goudie
D
D
Heron
S E
SE
Scheffer
I E
IE
Sutherland
G R
GR
Berkovic
S F
SF
Bertrand
D
D
Mulley
J C
JC
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
D000109:Acetylcholine; D021122:Protein Subunits; D011978:Receptors, Nicotinic