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Type: Journal article
Title: CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
Author: Phillips, H.
Favre, I.
Kirkpatrick, M.
Zuberi, S.
Goudie, D.
Heron, S.
Scheffer, I.
Sutherland, G.
Berkovic, S.
Bertrand, D.
Mulley, J.
Citation: American Journal of Human Genetics, 2001; 68(1):225-231
Publisher: Univ Chicago Press
Issue Date: 2001
ISSN: 0002-9297
Statement of
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.
RMID: 0020010881
DOI: 10.1086/316946
Appears in Collections:Molecular and Biomedical Science publications

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