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NEUROLOGY 1995;45:1713-1720
© 1995 American Academy of Neurology

Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies

T. Sander, MD, D. Janz, MD, C. Ramel, BS, C.A. Ross, MD, PhD, W. Paschen, PhD, T. Hildmann, BS, T. F. Wienker, MD, A. Bianchi, MD, G. Bauer, MD, U. Sailer, MD, K. Berek, MD, H. Neitzel, PhD, A. Volz, PhD, A. Ziegler, PhD, B. Schmitz, MD and G. Beck-Mannagetta, MD

From the Departments of Psychiatry (Drs. Sander and Schmitz) and Neurology (Drs. Janz and Beck-Mannagetta) and the Institute for Experimental Oncology and Transplantation Medicine (Drs. Ziegler and Volz), University Hospital Rudolf Virchow, and the Institute of Human Genetics (Dr. Neitzel and C. Ramel and T. Hildmann), Free University Berlin, Germany; the Genetic Epidemiology Group (Dr. Wienker), Max-Delbruck-Centre, Berlin, Germany; the Departments of Psychiatry and Neuroscience (Drs. Ross and Paschen), Johns Hopkins Medical School, Baltimore, MD; the Department of Neurology (Drs. Bauer, Berek, and Sailer), University Innsbruck, Austria; and the Genetic Collaborative Group of the Italian League Against Epilepsy (represented by Dr. Bianchi), Italy.
Supported by the Deutsche Forschungsgemeinschaft, the Stiftung Michael, the NIH (MH50763), and the European Union (Gene CT93-0075).
Received November 1, 1994. Accepted in final form February 3, 1995.
Address correspondence and reprint requests to Dr. Thomas Sander, Psychiatrische Klinik und Poliklinik, Universitatsklinikum Rudolf Virchow, Freie Universitat Berlin, Eschenallee 3, 14050 Berlin, Germany.

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs).The pivotal function of glutamate receptors (GluRs) in excitatory neurotransmission implicates their involvement in epileptogenesis and genetic susceptibility to IGEs. A trinucleotide repeat polymorphism detected in the 3 prime untranslated region of the kainate-selective GluR6 receptor gene (GRIK2) on chromosome 6 makes it possible to perform linkage and association studies with this high-ranking candidate gene. The present study tested the hypothesis that allelic variants of GRIK2 contribute to the genetic susceptibility to the common IGEs. Linkage and association analyses were conducted in 63 families ascertained through IGE patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, or childhood absence epilepsy. Our linkage and association results suggest that allelic variants of GRIK2 are not involved in the expression of the common familial IGEs, and radiation hybrid mapping assigns GRIK2 to the chromosomal region 6q16.3-q21. This localization excludes GRIK2 as a candidate for the putative IGE susceptibility locus ``EJM1'' on the short arm of chromosome 6.

NEUROLOGY 1995;45: 1713-1720






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