Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 - and genetic heterogeneity

Martina Durner, Guillan Zhou, Dingyi Fu, Paula Abreu, Shlomo Shinnar, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Jeffrey Cohen, Cynthia Harden, Harriet Kang, Sibylle Wallace, Daniel Luciano, Karen Ballaban-Gil, Irene Klotz, Elisa Dicker, David A. Greenberg

Research output: Contribution to journalArticle

54 Scopus citations

Abstract

Several loci and candidate genes for epilepsies or epileptic syndromes map or have been suggested to map to chromosome 8. We investigated families with adolescent-onset idiopathic generalized epilepsy (IGE), for linkage to markers spanning chromosome 8. The IGEs that we studied included juvenile myoclonic epilepsy (JME), epilepsy with only generalized tonic-clonic seizures occurring either randomly during the day (random grand mal) or on awakening (awakening grand mal), and juvenile absence epilepsy (JAE). We looked for a gene common to all these IGEs, but we also investigated linkage to specific subforms of IGE. We found evidence for linkage to chromosome 8 in adolescent-onset IGE families in which JME was not present. The maximum multipoint LOD score was 3.24 when family members with IGE or generalized spike-and-waves (SW) were considered affected. The LOD score remained very similar (3.18) when clinically normal family members with SW were not considered to be affected. Families with either pure grand mal epilepsy or absence epilepsy contributed equally to the positive LOD score. The area where the LOD score reaches the maximum encompasses the location of the gene for the β3-subunit of the nicotinic acetylcholine receptor (CHRNB3), thus making this gene a possible candidate for these specific forms of adolescent- onset IGE. The data excluded linkage of JME to this region. These results indicate genetic heterogeneity within IGE and provide no evidence, on chromosome 8, for a gene common to all IGEs.

Original languageEnglish (US)
Pages (from-to)1411-1419
Number of pages9
JournalAmerican Journal of Human Genetics
Volume64
Issue number5
DOIs
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Durner, M., Zhou, G., Fu, D., Abreu, P., Shinnar, S., Resor, S. R., Moshe, S. L., Rosenbaum, D., Cohen, J., Harden, C., Kang, H., Wallace, S., Luciano, D., Ballaban-Gil, K., Klotz, I., Dicker, E., & Greenberg, D. A. (1999). Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 - and genetic heterogeneity. American Journal of Human Genetics, 64(5), 1411-1419. https://doi.org/10.1086/302371