Functional Genomic Variation in the Epilepsies (EuroEPINOMICS)

Complex genetics of idiopathic epilepsies (CoGIE)

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Idiopathic generalized epilepsy (IGE) and Rolandic epilepsy (RE)/centro-temporal spikes (CTS), the two most common idiopathic epilepsy syndromes represent prototypes for common diseases with complex inheritance. Rare mutations (mainly in ion channels) and different microdeletions (in up to 3% of IGE) have been identified as risk factors in both diseases, but the vast majority of the underlying genetic variation remains to be identified. The objective of CoGIE is to unravel the genetic basis and pathophysiology of IGE and RE establishing a unique interdisciplinary research network of clinicians, geneticists, biostatisticians, physiologists and neuroanatomists.
By using a combination of modern genetic techniques, comprehensive biostatistical analysis and subsequent functional analysis of selected genes and mutations, we aim to reveal new pathophysiological pathways of common idiopathic epilepsy syndromes.

PROJECT LEADER:
Professor Holger Lerche, Abt. Neurologie mit Schwerpunkt Epileptologie, Hertie Institut für Klinische Hirnforschung, Universitätsklinikum Tübingen, Germany

PRINCIPAL INVESTIGATORS:
Professor Rudi Balling, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Luxembourg
Professor Anna-Elina Lehesjoki, Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, Finland
Dr Zsofia Magloczky, Department of Cellular and Network Biology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Hungary
Professor Bernd Neubauer, Department of Pediatric Neurology, Faculty of Medicine and Pediatrics, Gießen University, Germany
Professor Peter Nürnberg, Cologne Center for Genomics (CCG), University of Cologne, Germany
Professor Fritz Zimprich, Department of Clinical Neurology, Medical University of Vienna, Austria

ASSOCIATED PARTNERS:
Dr Bobby Koeleman
, Department of Medical Genetics, University Medical Center Utrecht, Netherlands
Professor Dimitri Kullmann / Dr Stephanie Schorge, Department of Clinical & Experimental Epilepsy, Institute of Neurology, University College London, United Kingdom
Dr Massimo Mantegazza, IN2M-IPMC, Université Nice - Sophia Antipolis, Valbonne, France
Professor Aarno Palotie, Wellcome Trust Sanger Institute, Cambridge, United Kingdom, and Finnish Institute for Molecular Medicine (FIMM), Helsinki, Finland
Professor Steven Petrou, Division of Epilepsy, Florey Neuroscience Institutes, University of Melbourne, Australia
Dr Thomas Sander, Cologne Center for Genomics, University of Cologne, Germany
Dr Federico Zara, Department of Neuroscience, Institute G. Gaslini, Genoa, Italy