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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Lal, Dennis; Ruppert, Ann-Kathrin; Trucks, Holger; Schulz, Herbert; de Kovel, Carolien G; Kasteleijn-Nolst Trenité, Dorothée; Sonsma, Anja C M; Koeleman, Bobby P; Lindhout, Dick; Weber, Yvonne G; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J; Kunz, Wolfram S; Surges, Rainer; Elger, Christian E; Gaus, Verena; Schmitz, Bettina; Helbig, Ingo; Muhle, Hiltrud; Stephani, Ulrich; Klein, Karl M; Rosenow, Felix; Neubauer, Bernd A; Reinthaler, Eva M; Zimprich, Fritz; Feucht, Martha; Møller, Rikke S; Hjalgrim, Helle; De Jonghe, Peter; Suls, Arvid; Lieb, Wolfgang; Franke, Andre; Strauch, Konstantin; Gieger, Christian; Schurmann, Claudia; Schminke, Ulf; Nürnberg, Peter; Sander, Thomas.
  • Lal D; 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, Ge
  • Ruppert AK; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany; EPICURE Consortium.
  • Trucks H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany; EPICURE Consortium.
  • Schulz H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany; EPICURE Consortium.
  • de Kovel CG; EPICURE Consortium; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kasteleijn-Nolst Trenité D; EPICURE Consortium.
  • Sonsma AC; EPICURE Consortium; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Koeleman BP; EPICURE Consortium; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Lindhout D; EPICURE Consortium; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; SEIN Epilepsy Institute in the Netherlands, Hoofddorp, The Netherlands.
  • Weber YG; EPICURE Consortium; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Lerche H; EPICURE Consortium; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Kapser C; EPICURE Consortium; Department of Neurology, University of Munich Hospital-Großhadern, Munich, Germany.
  • Schankin CJ; EPICURE Consortium; Department of Neurology, University of Munich Hospital-Großhadern, Munich, Germany.
  • Kunz WS; EPICURE Consortium; Department of Epileptology, University Clinics Bonn, Bonn, Germany.
  • Surges R; EPICURE Consortium; Department of Epileptology, University Clinics Bonn, Bonn, Germany.
  • Elger CE; EPICURE Consortium; Department of Epileptology, University Clinics Bonn, Bonn, Germany.
  • Gaus V; EPICURE Consortium; Department of Neurology, Charité University Medicine, Campus Virchow Clinic, Berlin, Germany.
  • Schmitz B; EPICURE Consortium; Department of Neurology, Charité University Medicine, Campus Virchow Clinic, Berlin, Germany; Department of Neurology, Vivantes Humboldt-Klinikum, Berlin, Germany.
  • Helbig I; EPICURE Consortium; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Kiel, Germany.
  • Muhle H; EPICURE Consortium; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Kiel, Germany.
  • Stephani U; EPICURE Consortium; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (Kiel Campus), Kiel, Germany.
  • Klein KM; 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.
  • Rosenow F; 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.
  • Neubauer BA; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany.
  • Reinthaler EM; EPICURE Consortium; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Zimprich F; EPICURE Consortium; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Feucht M; EPICURE Consortium; Department of Pediatrics and Neonatology, Medical University of Vienna, Vienna, Austria.
  • Møller RS; EPICURE Consortium; Department of Neurology, Danish Epilepsy Centre, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Hjalgrim H; EPICURE Consortium; Department of Neurology, Danish Epilepsy Centre, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • De Jonghe P; 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.
  • Suls A; 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.
  • Lieb W; Institute of Epidemiology and Biobank Popgen, Christian Albrechts University, Kiel, Germany.
  • Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
  • Strauch K; 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.
  • Gieger C; 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, He
  • Schurmann C; Interfaculty Institute for Genetics and Functional Genomics, Ernst Moritz Arndt University, Greifswald, Germany.
  • Schminke U; Department of Neurology, University Medicine Greifswald, Ernst Moritz Arndt University, Greifswald, Germany.
  • Nürnberg P; 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,
  • Sander T; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany; EPICURE Consortium.
PLoS Genet ; 11(5): e1005226, 2015 May.
Article en En | MEDLINE | ID: mdl-25950944
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Eliminación de Secuencia / Trastornos del Neurodesarrollo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Eliminación de Secuencia / Trastornos del Neurodesarrollo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article