Journal article

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl, Brigid M Regan, Martha Feucht, Hannelore Steinboeck, Birgit Neophytou, Gabriel M Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig Show all



Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65,046 European population controls (5/393 ..

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Awarded by Austrian science fund

Awarded by German Research Foundation (DFG) within EuroEPINOMICS network within EURO-CORES framework of the European Science Foundation (ESF)

Awarded by European Community

Awarded by DFG as part of the priority program SPP1226: 'Nicotine-Molecular and physiological effects in CNS'

Awarded by Simons Foundation Autism Research Initiative

Awarded by National Health and Medical Research Council

Awarded by Austrian Science Fund (FWF)

Funding Acknowledgements

This work was supported by the Austrian science fund (FWF 1643-B09 to F.Z.) and the German Research Foundation (DFG) within the EuroEPINOMICS network within the EURO-CORES framework of the European Science Foundation (ESF) (DFG Ne 416/5-1 to B.N.), (DFG SA434/5-1 to T. S.) and (DFG Le1030/11-1 to H. L.). The study was further supported by grants from the European Community (FP6 Integrated Project EPICURE, grant LSHM-CT-2006-037315 to T. S.). The PopGen biobank (grant to A. F.) 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. G. W. (Wi1316/9-1) providing control data is funded by the DFG as part of the priority program SPP1226: 'Nicotine-Molecular and physiological effects in CNS'. K. M. is a grantee of a scholarship from the Swiss Scientific Exchange NMS Program and S.J. is recipient of a 'bourse de releve academique de la Faculte de Biologie et Medecine de l'Universite de Lausanne'. This work is also supported by the Leenaards Foundation Prize (S.J. and A.R.), the Simons Foundation Autism Research Initiative (SFARI274424 to A. R.), the Swiss National Science Foundation (SNSF) (A. R.) and a specific SNSF Sinergia grant (A. R.). For the Australian cohort the study was supported by a National Health and Medical Research Council Program Grant (628952) to S. F. B and I. E. S, an Australia Fellowship (466671) to S. F. B, a Practitioner Fellowship (1006110) to I. E. S and a Postdoctoral Training Fellowship (546493) to M. S. H. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.