ELSEVIER Epilepsy Research 23 (1996) 235-244
EPILEPSY
RKSEAI H
Exclusion of linkage between idiopathic generalized epilepsies
and the GABA A receptor a 1 and T2 subunit gene cluster on
chromosome 5
Thomas Sander a,b, *, Thomas Hildmann c, Dieter Janz b, Thomas F. Wienker d,
Amedeo Bianchi e, Gerd Bauer f, Ulrike Sailer f, Alejandro Scaramelli g,
Heidemarie Neitzel c Bettina Schmitz a,b Mark E.S. Bailey h,1
9 9
Gertrud Beck-Mannagetta b, Keith J. Johnson h,2, Mark G. Darlison i
a Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany
b Department of Neurology, University Hospital RudolfVirchow, Humboldt University of Berlin, Augustenburger Platz 1,
13353 Berlin, Germany
c Institute of Human Genetics, Humboldt University of Berlin, Heubner Weg 6, 14059 Berlin, Germany
d Genetic Epidemiology Group, Max-Delbr~ck-Centre, Robert-R5ssle Sir. I0, 13122 Berlin, Germany
e Genetic Collaborative Group of the Italian League Against Epilepsy, Department of Neurophysiology, University ofArezzo, Ospedale USL
23, Via della Fonte Veneziana 17, 52100 Arezzo, Italy
f Department of Neurology, University ofInnsbruck, Anichstr. 35, 6020 Innsbruck, Austria
g Institute of Neurology, University Hospital, "Hospital de Clinicas', Av. Italia S / N , CP 11600, Montevideo, Uruguay
h Department of Anatomy, Charing Cross and Westminster Medical School, The Reynolds Building, St Duastan's Road,
London W6 8RP, UK
i lnstitatefor Cell Biochemistry and Clinical Neurobiology, University Hospital Eppendorf, University of Hamburg, Martinistr. 232,
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 3'-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 a l (GABRA1) and 3,2 subunit (GABRG2) gene cluster on
chromosome 5q32-q35 offer the opportunity to test whether these candidate genes confer susceptibility to IGEs. Our linkage
* 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.
Present address: Laboratory of Genetics, Pontecorvo Building, Anderson College, University of Glasgow, 56 Dumbarton Road,
Glasgow GI 1 6NU, United Kingdom.
2 Present address: Laboratory of Genetics, Pontecorvo Building, Anderson College, University of Glasgow, 56 Dumbarton Road,
Glasgow GI 1 6NU, United Kingdom.
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