Genome search for susceptibility loci of common idiopathic generalised epilepsies
- PMID: 10888596
- DOI: "V体育ios版" 10.1093/hmg/9.10.1465
Genome search for susceptibility loci of common idiopathic generalised epilepsies
Abstract
Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility loci that predispose to a spectrum of common IGE syndromes. Our collaborative study included 130 IGE-multiplex families ascertained through a proband with either an idiopathic absence epilepsy or juvenile myoclonic epilepsy, and one or more siblings affected by an IGE trait. In total, 413 microsatellite polymorphisms were genotyped in 617 family members. Non-parametric multipoint linkage analysis, using the GeneHunter program, provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (Z(NPL) = 4 VSports手机版. 19 at D3S3725; P = 0. 000017) and suggestive evidence for two IGE loci on chromosome 14q23 (Z(NPL) = 3. 28 at D14S63; P = 0. 000566), and chromosome 2q36 (Z(NPL) = 2. 98 at D2S1371; P = 0. 000535). The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes. The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening. .
Publication types
- Actions (V体育官网入口)
- V体育安卓版 - Actions
MeSH terms
- "VSports app下载" Actions
- Actions (V体育官网)
- V体育安卓版 - Actions
- VSports最新版本 - Actions
- V体育平台登录 - Actions
LinkOut - more resources
- V体育2025版 - Full Text Sources
- Molecular Biology Databases (V体育平台登录)
 
        