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Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q

Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5–1.0 per 1000 and a ratio of sibling risk to population prevalence (λ s ) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the a4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the α7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at α = 0.65; Z all = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied. © 1997 Oxford University Press « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (1997) 6 (8): 1329-1334. doi: 10.1093/hmg/6.8.1329 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Article Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Elmslie, F. V. Articles by Gardiner, R. M. Search for related content PubMed PubMed citation Articles by Elmslie, F. V. Articles by Rees, M. Articles by Williamson, M. P. Articles by Kerr, M. Articles by Kjeldsen, M. J. Articles by An Pang, K. Articles by Sundqvist, A. Articles by Friis, M. L. Articles by Chadwick, D. Articles by Richens, A. Articles by Covanis, A. Articles by Santos, M. Articles by Arzimanoglou, A. Articles by Panayiotopoulos, C. P. Articles by Curtis, D. Articles by Whitehouse, W. P. Articles by Gardiner, R. M. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue November 15, 2015 24 (22) Alert me to new issues The Journal About this journal Rights & Permissions Dispatch date of the next issue This journal is a member of the Committee on Publication Ethics (COPE) We are mobile – find out more Journals Career Network Impact factor: 6.393 5-Yr impact factor: 6.850 Executive Editors Professor Kay Davies Professor Anthony Wynshaw-Boris Professor Joel Hirschhorn Dr Jeffrey Barrett View full editorial board For Authors Instructions to authors Online submission Submit Now! Self-archiving policy Open access options for authors - visit Oxford Open This journal enables compliance with the NIH Public Access Policy Alerting Services Email table of contents Email Advance Access CiteTrack XML RSS feed Corporate Services Advertising sales Reprints Supplements var taxonomies = ("SCI01140"); Most Most Read Genetics of obesity and the prediction of risk for health Non-coding RNA Telomerase and cancer Ion channel diseases Down syndrome--recent progress and future prospects » View all Most Read articles Most Cited The DNA methyltransferases of mammals Nonsense-Mediated mRNA Decay in Health and Disease Mutation of human short tandem repeats Prediction of deleterious human alleles Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. 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References (38)

Publisher
Oxford University Press
Copyright
Copyright © 2015 Oxford University Press
ISSN
0964-6906
eISSN
1460-2083
DOI
10.1093/hmg/6.8.1329
Publisher site
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Abstract

The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5–1.0 per 1000 and a ratio of sibling risk to population prevalence (λ s ) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the a4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the α7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at α = 0.65; Z all = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied. © 1997 Oxford University Press « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (1997) 6 (8): 1329-1334. doi: 10.1093/hmg/6.8.1329 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Article Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Elmslie, F. V. Articles by Gardiner, R. M. Search for related content PubMed PubMed citation Articles by Elmslie, F. V. Articles by Rees, M. Articles by Williamson, M. P. Articles by Kerr, M. Articles by Kjeldsen, M. J. Articles by An Pang, K. Articles by Sundqvist, A. Articles by Friis, M. L. Articles by Chadwick, D. Articles by Richens, A. Articles by Covanis, A. Articles by Santos, M. Articles by Arzimanoglou, A. Articles by Panayiotopoulos, C. P. Articles by Curtis, D. Articles by Whitehouse, W. P. Articles by Gardiner, R. M. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue November 15, 2015 24 (22) Alert me to new issues The Journal About this journal Rights & Permissions Dispatch date of the next issue This journal is a member of the Committee on Publication Ethics (COPE) We are mobile – find out more Journals Career Network Impact factor: 6.393 5-Yr impact factor: 6.850 Executive Editors Professor Kay Davies Professor Anthony Wynshaw-Boris Professor Joel Hirschhorn Dr Jeffrey Barrett View full editorial board For Authors Instructions to authors Online submission Submit Now! Self-archiving policy Open access options for authors - visit Oxford Open This journal enables compliance with the NIH Public Access Policy Alerting Services Email table of contents Email Advance Access CiteTrack XML RSS feed Corporate Services Advertising sales Reprints Supplements var taxonomies = ("SCI01140"); Most Most Read Genetics of obesity and the prediction of risk for health Non-coding RNA Telomerase and cancer Ion channel diseases Down syndrome--recent progress and future prospects » View all Most Read articles Most Cited The DNA methyltransferases of mammals Nonsense-Mediated mRNA Decay in Health and Disease Mutation of human short tandem repeats Prediction of deleterious human alleles Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1460-2083 - Print ISSN 0964-6906 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Journal

Human Molecular GeneticsOxford University Press

Published: Aug 1, 1997

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