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|Title:||CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy|
|Citation:||American Journal of Human Genetics, 2001; 68(1):225-231|
|Publisher:||Univ Chicago Press|
|Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi, David Goudie, Sarah E. Heron, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand and John C. Mulley|
|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.|
|Keywords:||Oocytes; Animals; Xenopus laevis; Humans; Epilepsy, Frontal Lobe; Seizures; Acetylcholine; Receptors, Nicotinic; Protein Subunits; Amino Acid Substitution; Pedigree; Amino Acid Sequence; Base Sequence; Conserved Sequence; Electric Conductivity; Genes, Dominant; Mutation; Molecular Sequence Data; Child; Scotland; Female; Male; Sleep Wake Disorders|
|Rights:||Copyright © 2001 The American Society of Human Genetics Published by Elsevier Inc.|
|Appears in Collections:||Molecular and Biomedical Science publications|
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