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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Leu, Costin; Balestrini, Simona; Maher, Bridget; Hernández-Hernández, Laura; Gormley, Padhraig; Hämäläinen, Eija; Heggeli, Kristin; Schoeler, Natasha; Novy, Jan; Willis, Joseph; Plagnol, Vincent; Ellis, Rachael; Reavey, Eleanor; O'Regan, Mary; Pickrell, William O; Thomas, Rhys H; Chung, Seo-Kyung; Delanty, Norman; McMahon, Jacinta M; Malone, Stephen; Sadleir, Lynette G; Berkovic, Samuel F; Nashef, Lina; Zuberi, Sameer M; Rees, Mark I; Cavalleri, Gianpiero L; Sander, Josemir W; Hughes, Elaine; Helen Cross, J; Scheffer, Ingrid E; Palotie, Aarno; Sisodiya, Sanjay M.
Afiliação
  • Leu C; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
  • Balestrini S; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK ; The Epilepsy Society, Chalfont-St-Peter, Bucks, UK ; Neuroscience Department, Polytechnic University of Marche, Ancona, Italy.
  • Maher B; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK ; The Epilepsy Society, Chalfont-St-Peter, Bucks, UK.
  • Hernández-Hernández L; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK ; The Epilepsy Society, Chalfont-St-Peter, Bucks, UK.
  • Gormley P; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA ; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA ; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Har
  • Hämäläinen E; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • Heggeli K; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
  • Schoeler N; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
  • Novy J; Department of Clinical Neurosciences, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland.
  • Willis J; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
  • Plagnol V; University College London Genetics Institute, London, UK.
  • Ellis R; Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK ; West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.
  • Reavey E; Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK ; West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.
  • O'Regan M; Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK.
  • Pickrell WO; Wales Epilepsy Research Network, Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
  • Thomas RH; Wales Epilepsy Research Network, Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
  • Chung SK; Wales Epilepsy Research Network, Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
  • Delanty N; Department of Neurology, Beaumont Hospital, Dublin, Ireland.
  • McMahon JM; Departments of Medicine and Neurology, University of Melbourne, Austin Health, Melbourne, Australia.
  • Malone S; Department of Neurosciences, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Sadleir LG; Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
  • Berkovic SF; Departments of Medicine and Neurology, University of Melbourne, Austin Health, Melbourne, Australia.
  • Nashef L; Department of Neurology, King's College Hospital, London, UK.
  • Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK ; School of Medicine, University of Glasgow, Glasgow, UK.
  • Rees MI; Wales Epilepsy Research Network, Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
  • Cavalleri GL; Molecular and Cellular Therapeutics Department, Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Sander JW; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK ; The Epilepsy Society, Chalfont-St-Peter, Bucks, UK.
  • Hughes E; Children's Neurosciences, Evelina Children's Hospital at Guys and St Thomas' NHS Foundation Trust, Kings Health Partners Academic Health Science Centre, London, UK.
  • Helen Cross J; UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; Young Epilepsy, Lingfield, UK.
  • Scheffer IE; Departments of Medicine and Neurology, University of Melbourne, Austin Health, Melbourne, Australia ; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia ; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
  • Palotie A; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA ; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA ; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Har
  • Sisodiya SM; NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK ; The Epilepsy Society, Chalfont-St-Peter, Bucks, UK.
EBioMedicine ; 2(9): 1063-70, 2015 Sep.
Article em En | MEDLINE | ID: mdl-26501104

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Herança Multifatorial / Epilepsia / Estudo de Associação Genômica Ampla Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: EBioMedicine Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Herança Multifatorial / Epilepsia / Estudo de Associação Genômica Ampla Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: EBioMedicine Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Holanda