Journal Article

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

Frances V. Elmslie, Michele Rees, Magali P. Williamson, Michael Kerr, Marianne J. Kjeldsen, Kiang An Pang, Anders Sundqvist, Mögens L. Friis, David Chadwick, Alan Richens, Athanasios Covanis, Manuela Santos, Alexis Arzimanoglou, Chrysostomos P. Panayiotopoulos, David Curtis, William P. Whitehouse and R. Mark Gardiner

in Human Molecular Genetics

Volume 6, issue 8, pages 1329-1334
Published in print August 1997 | ISSN: 0964-6906
Published online August 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.8.1329
Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q

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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 (λs) 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; Zall = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied.

Journal Article.  4038 words.  Illustrated.

Subjects: Genetics and Genomics

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