No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1

Thomas Sander, Christine Windemuth, Herbert Schulz, Kathrin Saar, Elena Gennaro, Amedeo Bianchi, Federico Zara, Christine Bulteau, Anna Kaminska, Dorothée Ville, Cécile Cieuta, Jean François Prud'homme, Olivier Dulac, Louise Bate, R. Mark Gardiner, Gerrit Jan De Haan, Guus A M A J Janssen, Jorine Witte, Dicky J J Halley, Dick LindhoutThomas F. Wienker, Dieter Janz

Research output: Contribution to journalArticlepeer-review


A recent genome-wide scan showed strong evidence for a major locus for common syndromes of idiopathic generalized epilepsy (IGE) at the marker D18S474 on chromosome 18q21.1 (LOD score 4.5/5.2 multipoint/two-point). The present replication study tested the presence of an IGE locus in the chromosomal region 18q21.1. Our linkage study included 130 multiplex families of probands with common IGE syndromes. Eleven microsatellite polymorphisms encompassing a candidate region of 30 cM on either side of the marker D18S474 were genotyped. The two-point homogeneity LOD score for D18S474 showed strong evidence against linkage at the original linkage peak (Z = -18.86 at θm=f = 0.05), assuming a recessive mode of inheritance with 50% penetrance. Multipoint parametric heterogeneity LOD scores <-2 were obtained along the candidate region when proportions of linked families greater than 35% were assumed under recessive inheritance. Furthermore, nonparametric multipoint linkage analyses showed no hint of linkage throughout the candidate region (P > 0.19). Accordingly, we failed to support evidence for a major IGE locus in the chromosomal region 18p11-18q23. If there is a susceptibility locus for IGE in this region then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample.

Original languageEnglish
Pages (from-to)673-678
Number of pages6
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
Publication statusPublished - Aug 8 2002


  • Chromosome 18
  • Genetics
  • Idiopathic generalized epilepsy
  • Linkage

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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