Scientific article
Open access

Genome search for susceptibility loci of common idiopathic generalised epilepsies

Published inHuman molecular genetics, vol. 9, no. 10, p. 1465-1472
Publication date2000-06-12

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) = 4.19 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.

  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 3
  • Epilepsy, Generalized / genetics
  • Family Health
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome, Human
  • Genotype
  • Humans
  • Lod Score
  • Microsatellite Repeats
  • Myoclonic Epilepsy, Juvenile / genetics
  • Polymorphism, Genetic
Affiliation Not a UNIGE publication
Citation (ISO format)
SANDER, T et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. In: Human molecular genetics, 2000, vol. 9, n° 10, p. 1465–1472. doi: 10.1093/hmg/9.10.1465
Main files (1)
Article (Published version)
ISSN of the journal0964-6906

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