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Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population
Affiliation:1. Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany;2. Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan;3. Analytic and Translational Genetics Unit, Department of Medicine, Boston, MA, USA;4. Massachusetts General Hospital, Boston, MA 02114, USA;5. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA;6. Division of General Biochemistry, Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, Leipzig University, 04103 Leipzig, Germany;7. Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany;8. Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103 Leipzig, Germany;9. CeGaT GmbH, 72076 Tuebingen, Germany;10. Hertie-Institute for Clinical Brain Research, 72070 Tubingen, Germany;11. Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany;12. Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany;13. Hasso-Plattner-Institut for Digital Engineering, University of Potsdam, Potsdam, Germany;14. Hasso Plattner Institute at Mount Sinai, Mount Sinai School of Medicine, New York, NY, USA;15. Institute for Molecular Medicine Finland: FIMM, University of Helsinki, Helsinki, Finland;1. Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA;2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA;3. Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA;4. VA Cooperative Studies Program Clinical Epidemiology Research Center (CSP-CERC), VA CT Healthcare System, West Haven, CT, USA;5. Department of Anthropology, University of Toronto, Mississauga, ON, Canada;6. Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada;7. Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA;8. Center for Innovations in Quality, Effectiveness, and Safety (IQuESt), Michael E. DeBakey VA Medical Center, Houston, TX 77030, USA;9. Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27705, USA;10. VA Cooperative Studies Program Epidemiology Center-Durham, Department of Veterans Affairs, Durham, NC 27705, USA;11. Department of Psychology and Neuroscience, University of Colorado Boulder, Boulder, CO, USA;12. Institute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA;1. Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;2. Department of Neurology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan;3. Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, Osaka, Japan;4. Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan;5. Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;6. Department of Neurology, Tohoku University Graduate School of Medicine, Miyagi, Japan;7. Department of Medical Genetics, Tohoku University Graduate School of Medicine, Miyagi, Japan;8. Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, National Centre Hospital, Tokyo, Japan;9. Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan;10. Department of Neurology, Wakayama Medical University, Wakayama, Japan;11. Department of Neurology, Kansai Medical University, Osaka, Japan;12. Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan;13. Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan;1. Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA;2. Harvard Medical School, Boston, MA, USA;1. Department of Medicine, Division of Medical Genetics, University of California San Diego, La Jolla, CA 92093, USA;2. Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA 92093, USA;3. Biomedical Science Program, University of California San Diego, La Jolla, CA 92093, USA;4. Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA 92093, USA;5. Public Health Sciences Division, Herbold Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA;6. Center for Data and Computational Sciences (C-DACS), VA Boston Healthcare System, Boston, MA 02130, USA;7. Booz Allen Hamilton, Inc., McLean, VA 22102, USA;8. Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto, CA, USA;9. Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA;10. Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA;11. Broad Institute of Harvard and MIT, Cambridge, MA 02115, USA;12. Department of Veterans Affairs Informatics and Computing Infrastructure (VINCI), VA Salt Lake City Healthcare System, Salt Lake City, UT, USA;13. Department of Internal Medicine, Division of Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA;14. VA San Diego Healthcare System, La Jolla, CA, USA;15. Center for Behavioral Genetics of Aging, University of California San Diego, La Jolla, CA, USA;16. Center of Excellence for Stress and Mental Health (CESAMH), VA San Diego Healthcare System, San Diego, CA, USA;17. Department of Medicine, Brigham Women’s Hospital, Boston, MA, USA;18. Department of Medicine, Harvard Medical School, Boston, MA, USA;19. Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA;20. Department of Pathology, University of California San Diego, La Jolla, CA 92093, USA;21. Division of Epidemiology, Herbert Wertheim School of Public Health and Human Longevity Science, University of California San Diego, La Jolla, CA 92093, USA;22. Center for Population Neuroscience and Genetics, Laureate Institute for Brain Research, Tulsa, OK 74136, USA;23. Moores Cancer Center, University of California San Diego, La Jolla, CA 92093, USA;24. Division of Biomedical Informatics, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA;25. The Laboratory of Immunology, University of California San Diego, La Jolla, CA 92093, USA;26. Department of Medicine, Division of Hematology and Oncology, University of California San Diego, La Jolla, CA 92093, USA;1. Department of Mathematics and Statistic, Laval University, Québec, QC G1V 0A6, Canada;2. CERVO Brain Research Centre, Québec, QC G1E 1T2, Canada;3. Department of Fundamental Sciences, University of Quebec in Chicoutimi, Chicoutimi, QC G7H 2B1, Canada;4. Department of Psychiatry and Neurosciences, Laval University, Québec, QC G1V 0A6, Canada;5. Department of Economics, Laval University, Québec, QC G1V 0A6, Canada;6. Department of Social and Preventive Medicine, Laval University, Québec, QC G1V 0A6, Canada;1. Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland;2. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA;3. Clinicum, Department of Public Health, University of Helsinki, Helsinki, Finland;4. Department of Epidemiology and Public Health, University College London, London, UK;5. Broad Institute of MIT and Harvard, Cambridge, MA, USA;6. Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA
Abstract:
Keywords:rare genetic variants  epilepsy  NAFE
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