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Genetics of the Epilepsies
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. 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Human Molecular Genetics – Oxford University Press
Published: Aug 1, 1997
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