title: Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies.
abstract: 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' 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.
authors.affiliation: Department of Psychiatry, University Hospital Rudolf Virchow, Berlin, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Sander
authors.forename: D
authors.initials: D
authors.lastname: Janz
authors.forename: C
authors.initials: C
authors.lastname: Ramel
authors.forename: C A
authors.initials: CA
authors.lastname: Ross
authors.forename: W
authors.initials: W
authors.lastname: Paschen
authors.forename: T
authors.initials: T
authors.lastname: Hildmann
authors.forename: T F
authors.initials: TF
authors.lastname: Wienker
authors.forename: A
authors.initials: A
authors.lastname: Bianchi
authors.forename: G
authors.initials: G
authors.lastname: Bauer
authors.forename: U
authors.initials: U
authors.lastname: Sailer
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000032:analysis; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018092:Kainic Acid Receptors / Q000235:genetics*
chemical_list: D004247:DNA; D018092:Kainic Acid Receptors