Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor α1 and γ2 subunit gene cluster on chromosome 5

Sander, Thomas; Hildmann, Thomas; Janz, Dieter; Wienker, Thomas F.; Bianchi, Amedeo; Bauer, Gerd; Sailer, Ulrike; Scaramelli, Alejandro; Neitzel, Heidemarie; Schmitz, Bettina; Bailey, Mark E.S.; Beck-Mannagetta, Gertrud; Johnson, Keith J.; Darlison, Mark G.

« Previous Next »Epilepsy Research
Volume 23, Issue 3 , Pages 235-244, April 1996

Exclusion of linkage between idiopathic generalized epilepsies and the GABA_A receptor α1 and γ2 subunit gene cluster on chromosome 5

Thomas Sander
- Corresponding author. Psychiatrische Klinik und Poliklinik, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany. Tel.: 49 30 8445 8665; fax: 49 30 8445 8393.
- Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany
- Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Thomas Hildmann
- Institute of Human Genetics, Humboldt University of Berlin, Heubner Weg 6, 14059 Berlin, Germany
Dieter Janz
- Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Thomas F. Wienker
- Genetic Epidemiology Group, Max-Delbrück-Centre, Robert-Rössle Str. 10, 13122 Berlin, Germany
Amedeo Bianchi
- Genetic Collaborative Group of the Italian League Against Epilepsy, Department of Neurophysiology, University of Arezzo, Ospedale USL 23, Via della Fonte Veneziana 17, 52100 Arezzo, Italy
Gerd Bauer
- Department of Neurology, University of Innsbruck, Anichstr. 35, 6020 Innsbruck, Austria
Ulrike Sailer
- Department of Neurology, University of Innsbruck, Anichstr. 35, 6020 Innsbruck, Austria
Alejandro Scaramelli
- Institute of Neurology, University Hospital, ‘Hospital de Clinicas’, Av. Italia S/N, CP 11600, Montevideo, Uruguay
Heidemarie Neitzel
- Institute of Human Genetics, Humboldt University of Berlin, Heubner Weg 6, 14059 Berlin, Germany
Bettina Schmitz
- Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany
- Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Mark E.S. Bailey
- Department of Anatomy, Charing Cross and Westminster Medical School, The Reynolds Building, St Dunstan's Road, London W6 8RP, UK
- Present address: Laboratory of Genetics, Pontecorvo Building, Anderson College, University of Glasgow, 56 Dumbarton Road, Glasgow G11 6NU, United Kingdom.
Gertrud Beck-Mannagetta
- Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Keith J. Johnson
- Department of Anatomy, Charing Cross and Westminster Medical School, The Reynolds Building, St Dunstan's Road, London W6 8RP, UK
- Present address: Laboratory of Genetics, Pontecorvo Building, Anderson College, University of Glasgow, 56 Dumbarton Road, Glasgow G11 6NU, United Kingdom.
Mark G. Darlison
- Institute for Cell Biochemistry and Clinical Neurobiology, University Hospital Eppendorf, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany

Received 15 September 1995; accepted 4 November 1995.

Abstract

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The pivotal function of ionotropic γ-aminobutyric acid type A receptors (GABRs) in inhibitory neurotransmission in the mammalian central nervous system suggests that they may be involved in epileptogenesis and genetic predisposition to IGEs. Dinucleotide repeat polymorphisms associated with the human GABA_A receptor α1 (GABRA1) and γ2 subunit (GABRG2) gene cluster on chromosome 5q32-q35 offer the opportunity to test whether these candidate genes confer susceptibility to IGEs. Our linkage analyses in 63 families ascertained through IGE patients with either juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy do not support the hypothesis that variants within the GABRA1 and GABRG2 gene cluster contribute a frequent major gene effect to the expression of the common familial IGEs.

Keywords: Idiopathic generalized epilepsy, γ-Aminobutyric acid type A receptor, Linkage, Chromosome 5, Genetics

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