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Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Pérez-Palma, Eduardo; Helbig, Ingo; Klein, Karl Martin; Anttila, Verneri; Horn, Heiko; Reinthaler, Eva Maria; Gormley, Padhraig; Ganna, Andrea; Byrnes, Andrea; Pernhorst, Katharina; Toliat, Mohammad R; Saarentaus, Elmo; Howrigan, Daniel P; Hoffman, Per; Miquel, Juan Francisco; De Ferrari, Giancarlo V; Nürnberg, Peter; Lerche, Holger; Zimprich, Fritz; Neubauer, Bern A; Becker, Albert J; Rosenow, Felix; Perucca, Emilio; Zara, Federico; Weber, Yvonne G; Lal, Dennis.
Afiliação
  • Pérez-Palma E; Faculty of Biological Sciences and Medicine, Center for Biomedical Research, Universidad Andres Bello, Santiago, Chile.
  • Helbig I; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Klein KM; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
  • Anttila V; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Horn H; Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.
  • Reinthaler EM; Department of Neurology, Epilepsy Center Hessen, University Hospitals Giessen & Marburg, and University of Marburg, Marburg, Germany.
  • Gormley P; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Ganna A; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Byrnes A; Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Pernhorst K; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Toliat MR; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Saarentaus E; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Howrigan DP; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Hoffman P; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Miquel JF; Department of Neuropathology, University of Bonn, Bonn, Germany.
  • De Ferrari GV; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Nürnberg P; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Lerche H; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Zimprich F; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Neubauer BA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Becker AJ; Division of Medical Genetics Department of Biomedicine, University of Basel, Basel, Switzerland.
  • Rosenow F; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Perucca E; Faculty of Biological Sciences and Medicine, Center for Biomedical Research, Universidad Andres Bello, Santiago, Chile.
  • Zara F; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research,University of Tübingen, Tübingen, Germany.
  • Lal D; Department of Neurology, Medical University of Vienna, Vienna, Austria.
J Med Genet ; 54(9): 598-606, 2017 09.
Article em En | MEDLINE | ID: mdl-28756411

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Epilepsias Parciais / Epilepsia Generalizada / Epilepsia Rolândica Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Chile

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Epilepsias Parciais / Epilepsia Generalizada / Epilepsia Rolândica Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Chile