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https://hdl.handle.net/2440/28107
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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 1537-6605 |
Statement of Responsibility: | 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. |
DOI: | 10.1086/316946 |
Published version: | http://dx.doi.org/10.1086/316946 |
Appears in Collections: | Aurora harvest 2 Molecular and Biomedical Science publications |
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