Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

• Dennis Lal ,

  Contributed equally to this work with: Dennis Lal, Ann-Kathrin Ruppert

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany, Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany, EPICURE Consortium

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• Ann-Kathrin Ruppert ,

  Contributed equally to this work with: Dennis Lal, Ann-Kathrin Ruppert

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, EPICURE Consortium

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• Holger Trucks,

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, EPICURE Consortium

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• Herbert Schulz,

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, EPICURE Consortium

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• Carolien G. de Kovel,

  Affiliations EPICURE Consortium, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

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• Dorothée Kasteleijn-Nolst Trenité,

  Affiliation EPICURE Consortium

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• Anja C. M. Sonsma,

  Affiliations EPICURE Consortium, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

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• Bobby P. Koeleman,

  Affiliations EPICURE Consortium, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

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• Dick Lindhout,

  Affiliations EPICURE Consortium, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands, SEIN Epilepsy Institute in the Netherlands, Hoofddorp, The Netherlands

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• Yvonne G. Weber,

  Affiliations EPICURE Consortium, Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany

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• Holger Lerche,

  Affiliations EPICURE Consortium, Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany

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• Claudia Kapser,

  Affiliations EPICURE Consortium, Department of Neurology, University of Munich Hospital—Großhadern, Munich, Germany

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• Christoph J. Schankin,

  Affiliations EPICURE Consortium, Department of Neurology, University of Munich Hospital—Großhadern, Munich, Germany

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• Wolfram S. Kunz,

  Affiliations EPICURE Consortium, Department of Epileptology, University Clinics Bonn, Bonn, Germany

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• Rainer Surges,

  Affiliations EPICURE Consortium, Department of Epileptology, University Clinics Bonn, Bonn, Germany

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• Christian E. Elger,

  Affiliations EPICURE Consortium, Department of Epileptology, University Clinics Bonn, Bonn, Germany

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• Verena Gaus,

  Affiliations EPICURE Consortium, Department of Neurology, Charité University Medicine, Campus Virchow Clinic, Berlin, Germany

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• Bettina Schmitz,

  Affiliations EPICURE Consortium, Department of Neurology, Charité University Medicine, Campus Virchow Clinic, Berlin, Germany, Department of Neurology, Vivantes Humboldt-Klinikum, Berlin, Germany

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• Ingo Helbig,

  Affiliations EPICURE Consortium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Kiel, Germany

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• Hiltrud Muhle,

  Affiliations EPICURE Consortium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Kiel, Germany

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• Ulrich Stephani,

  Affiliations EPICURE Consortium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Kiel, Germany

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• Karl M. Klein,

  Affiliations EPICURE Consortium, Epilepsy-Center Hessen, Department of Neurology, Philipps-University Marburg, Marburg, Germany, Epilepsy Center Frankfurt Rhein-Main, Department of Neurology, Johann Wolfgang Goethe University Frankfurt, Frankfurt, Germany

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• Felix Rosenow,

  Affiliations EPICURE Consortium, Epilepsy-Center Hessen, Department of Neurology, Philipps-University Marburg, Marburg, Germany, Epilepsy Center Frankfurt Rhein-Main, Department of Neurology, Johann Wolfgang Goethe University Frankfurt, Frankfurt, Germany

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• Bernd A. Neubauer,

  Affiliation Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany

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• Eva M. Reinthaler,

  Affiliations EPICURE Consortium, Department of Neurology, Medical University of Vienna, Vienna, Austria

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• Fritz Zimprich,

  Affiliations EPICURE Consortium, Department of Neurology, Medical University of Vienna, Vienna, Austria

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• Martha Feucht,

  Affiliations EPICURE Consortium, Department of Pediatrics and Neonatology, Medical University of Vienna, Vienna, Austria

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• Rikke S. Møller,

  Affiliations EPICURE Consortium, Department of Neurology, Danish Epilepsy Centre, Dianalund, Denmark, Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark

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• Helle Hjalgrim,

  Affiliations EPICURE Consortium, Department of Neurology, Danish Epilepsy Centre, Dianalund, Denmark, Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark

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• Peter De Jonghe,

  Affiliations EPICURE Consortium, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

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• Arvid Suls,

  Affiliations EPICURE Consortium, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

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• Wolfgang Lieb,

  Affiliation Institute of Epidemiology and Biobank Popgen, Christian Albrechts University, Kiel, Germany

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• Andre Franke,

  Affiliation Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany

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• Konstantin Strauch,

  Affiliations Institute of Genetic Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany, Institute of Medical Informatics, Biometry and Epidemiology, and Chair of Genetic Epidemiology, Ludwig-Maximilians-University, Munich, Germany

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• Christian Gieger,

  Affiliations Institute of Genetic Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany, Research Unit of Molecular Epidemiology, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany, Institute of Epidemiology II, Helmholtz Zentrum München—German Research Center for Environmental Health, Neuherberg, Germany

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• Claudia Schurmann,

  Affiliation Interfaculty Institute for Genetics and Functional Genomics, Ernst Moritz Arndt University, Greifswald, Germany

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• Ulf Schminke,

  Affiliation Department of Neurology, University Medicine Greifswald, Ernst Moritz Arndt University, Greifswald, Germany

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• Peter Nürnberg,

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany, EPICURE Consortium, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

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• EPICURE Consortium ,

  ¶Membership of the EPICURE Consortium is provided in the Acknowledgments.

  Affiliation EPICURE Consortium

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•  [ ... ],
• Thomas Sander

  * E-mail: sandert@uni-koeln.de

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, EPICURE Consortium

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