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Human Molecular Genetics, 2000, Vol. 9, No. 10 1465-1472
© 2000 Oxford University Press

Genome search for susceptibility loci of common idiopathic generalised epilepsies

Thomas Sander+, Herbert Schulz §, Kathrin Saar1,§, Elena Gennaro2, M. Concetta Riggio2, Amedeo Bianchi2, Federico Zara2, David Luna3, Christine Bulteau3, Anna Kaminska3, Dorothée Ville3, Cécile Cieuta3, Fabienne Picard3, Jean-François Prud’homme4, Louise Bate5, Anders Sundquist5, R. Mark Gardiner5, Guus A.M.A.J. Janssen6, Gerrit-Jan de Haan6, Dorothée G.A. Kasteleijn-Nolst-Trenité6, Adri Bader6, Dick Lindhout6, Olaf Riess, Thomas F. Wienker1, Dieter Janz and André Reis1

Epilepsy Genetics Group, Department of Neurology, University Hospital Charité, Campus Virchow Clinic, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, 1Gene Mapping Centre, Max Delbrueck Centre, Robert-Roessle Str. 10, Berlin, Germany, 2Italian League against Epilepsy Collaborative Group on Genetics, Via Foscolo 7, 40123 Bologna, Italy, 3Association pour la Recherche sur la Génétique des Epilepsies, Hôpital Saint Vincent de Paul, 82 avenue Denfert Rochereau, 75674 Paris cedex 14, France, 4Généthon, 1 bis rue de l’Internationale, 91000 Evry, France, 5European Concerted Action on the Genetic Analysis of Epilepsy, Department of Paediatrics, Royal Free and University College Medical School, University College London, Gower Street Campus, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK and 6Dutch Research Group on Juvenile Myoclonic Epilepsy and Idiopathic Generalised Epilepsy, MGC-Department of Clinical Genetics, Erasmus University Rotterdam, dr. Molewaterplein 50, 3000 DR Rotterdam, The Netherlands.

Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility loci that predispose to a spectrum of common IGE syndromes. Our collaborative study included 130 IGE-multiplex families ascertained through a proband with either an idiopathic absence epilepsy or juvenile myoclonic epilepsy, and one or more siblings affected by an IGE trait. In total, 413 microsatellite polymorphisms were genotyped in 617 family members. Non-parametric multipoint linkage analysis, using the GeneHunter program, provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (ZNPL = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (ZNPL = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (ZNPL = 2.98 at D2S1371; P = 0.000535). The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes. The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening.

+ To whom correspondence should be addressed. Tel: +49 30 45060028, Fax: +49 30 45060938

§ These authors contributed equally to the present study.


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