Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

M Steffens; C Leu; AK Ruppert; F Zara; P Striano; A Robbiano; G Capovilla; P Tinuper; A Gambardella; A Bianchi; A La neve; G Crichiutti; CGF de kovel; DKN Trenité; GJ de haan; D Lindhout; V Gaus; B Schmitz; D Janz; YG Weber; F Becker; H Lerche; BJ Steinhoff; AA Kleefuß-Lie; WS Kunz; R Surges; CE Elger; H Muhle; S Von spiczak; P Ostertag; I Helbig; U Stephani; RS Møller; H Hjalgrim; LM Dibbens; S Bellows; K Oliver; S Mullen; IE Scheffer; SF Berkovic; KV Everett; MR Gardiner; C Marini; R Guerrini; AE Lehesjoki; A Siren; M Guipponi; A Malafosse; P Thomas; R Nabbout; S Baulac; E Leguern; R Guerrero; JM Serratosa; PS Reif; F Rosenow; M Mörzinger; M Feucht; F Zimprich; C Kapser; CJ Schankin; A Suls; K Smets; P De jonghe; A Jordanova; H Caglayan; Z Yapici; DA Yalcin; B Baykan; N Bebek; U Ozbek; C Gieger; HE Wichmann; T Balschun; D Ellinghaus; A Franke; C Meesters; T Becker; TF Wienker; A Hempelmann; H Schulz; F Rüschendorf; M Leber; SM Pauck; H Trucks; MR Toliat; P Nürnberg; G Avanzini; BPC Koeleman; T Sander; S Weckhuysen; L Claes; L Deprez; T Van Dyck; T Deconinck; R Velizarova; P Dimova; M Radionova

Journal article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

M Steffens, C Leu, AK Ruppert, F Zara, P Striano, A Robbiano, G Capovilla, P Tinuper, A Gambardella, A Bianchi, A La neve, G Crichiutti, CGF de kovel, DKN Trenité, GJ de haan, D Lindhout, V Gaus, B Schmitz, D Janz, YG Weber Show all

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2012

DOI: 10.1093/hmg/dds373

Abstract

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associat..

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University of Melbourne Researchers

Karen L Oliver Author

Ingrid Scheffer Author

Sam Berkovic Author

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NHMRC Australia Fellowship

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider ..

Grants

Awarded by Sixth Framework Programme

Funding Acknowledgements

This work was supported by grants from the European Community (FP6 Integrated Project EPICURE, grant LSHM-CT-2006-037315 to D. L., H. L., C. E. E., R. G., A-E. L., J.S., E. L., F. R., U.O., T. S., FP6 MEXCT visual sensitivity, 024224 to D.K.-N.T.); the German Research Foundation (grants SA434/4-2, SA434/5-1 to T. S., BE3828/4-1 to T. B.); the German Federal Ministry of Education and Research, National Genome Research Network (NGFN-2: NeuroNet to C. E. E., H. L. and T. S.; NGFNplus: EMINet, grants 01GS08120 to P.N. and T. S., and 01GS08123 to H. L.; IntenC, TUR 09/I10 to T. S.); the German Society for Epileptology/German chapter of the ILAE (DGfE: to H. L. and Y.W.); the Belgian National Fund for Scientific Research (Flanders, grant 0399.08 to P.D.J.); the Research Fund of the University of Antwerp (IWS BOF UA 2008 to A.J. and P.D.J.); the National Science Fund, Bulgarian Ministry of Education, Youth and Science (grant DTK02/67 to A.J.); The Netherlands National Epilepsy Fund (grant 04-08 to B. P. C. K. and D. L.); The Netherlands Organization for Scientific Research (grant 917.66.315 to B. P. C. K. and C.G.F.d.K.); the PopGen biobank (grant to A. F.); Spanish Ministry of Education and Science (grant SAF2007-61003 to J.M.S); the Scientific and Technological Research Council of Turkey (TUBITAK grant 106S027 to H. C.) and Bogazici University Research Fund (grants 05HB104D, 06B107D and 08HB104D to H. C.); the National Health and Medical Research Council (Australia) (grant to L. M. D., S. M., S. B., K.O., I. E. S. and S. F. B.). The PopGen project received infrastructure support through the German Research Foundation excellence cluster 'Inflammation at Interfaces'. The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Zentrum Munchen-German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research and by the State of Bavaria; this research was supported within the Munich Center of Health Sciences (MC Health) as part of LMUinnovativ.