No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures

C. Windemuth, H. Schulz, K. Saar, E. Gennaro, A. Bianchi, F. Zara, C. Bulteau, A. Kaminska, D. Ville, C. Cieuta, R. Nabbout-Tarantino, J. F. Prud'Homme, O. Dulac, L. Bate, R. M. Gardiner, D. Lindhout, T. F. Wienker, D. Janz, T. Sander

Research output: Contribution to journalArticle

Abstract

A recent genome-wide scan revealed suggestive evidence for two susceptibility loci for idiopathic generalized epilepsy (IGE) in the chromosomal regions 5p15 and 5q14-q22 in families with typical absence seizures. The present replication study tested the validity of the tentative IGE loci on chromosome 5. Our study included 99 multiplex families in which at least one family member had typical absence seizures. Parametric and non-parametric multipoint linkage analyses were carried out between the IGE trait and 23 microsatellite polymorphisms covering the entire region of chromosome 5. Multipoint parametric heterogeneity lod scores 60% under dominant inheritance. Furthermore, non-parametric multipoint linkage analyses revealed no hint of linkage throughout the candidate region (P>0.05). Accordingly, we failed to support previous evidence for common IGE loci on chromosome 5. If there is a susceptibility locus for IGE on chromosome 5 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)23-29
Number of pages7
JournalEpilepsy Research
Volume51
Issue number1-2
DOIs
Publication statusPublished - Sep 2002

Keywords

  • Absence epilepsy
  • Chromosome 5
  • Genetics
  • Linkage
  • Replication

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Fingerprint Dive into the research topics of 'No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures'. Together they form a unique fingerprint.

  • Cite this

    Windemuth, C., Schulz, H., Saar, K., Gennaro, E., Bianchi, A., Zara, F., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., Nabbout-Tarantino, R., Prud'Homme, J. F., Dulac, O., Bate, L., Gardiner, R. M., Lindhout, D., Wienker, T. F., Janz, D., & Sander, T. (2002). No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures. Epilepsy Research, 51(1-2), 23-29. https://doi.org/10.1016/S0920-1211(02)00097-9