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Rare gene deletions in genetic generalized and Rolandic epilepsies.
Jabbari, Kamel; Bobbili, Dheeraj R; Lal, Dennis; Reinthaler, Eva M; Schubert, Julian; Wolking, Stefan; Sinha, Vishal; Motameny, Susanne; Thiele, Holger; Kawalia, Amit; Altmüller, Janine; Toliat, Mohammad Reza; Kraaij, Robert; van Rooij, Jeroen; Uitterlinden, André G; Ikram, M Arfan; Zara, Federico; Lehesjoki, Anna-Elina; Krause, Roland; Zimprich, Fritz; Sander, Thomas; Neubauer, Bernd A; May, Patrick; Lerche, Holger; Nürnberg, Peter.
Afiliación
  • Jabbari K; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Bobbili DR; Cologne Biocenter, Institute for Genetics, University of Cologne, Cologne, Germany.
  • Lal D; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Reinthaler EM; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Schubert J; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Wolking S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
  • Sinha V; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
  • Motameny S; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Thiele H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Kawalia A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Altmüller J; Institute for Molecular Medicine FIMM, University of Helsinki, Helsinki, Finland.
  • Toliat MR; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Kraaij R; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • van Rooij J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Uitterlinden AG; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Ikram MA; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Zara F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Lehesjoki AE; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Krause R; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Zimprich F; Departments of Epidemiology, Neurology, and Radiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Neubauer BA; Laboratory of Neurogenetics and Neuroscience, Institute G. Gaslini, Genova, Italy.
  • May P; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
  • Lerche H; Neuroscience Center and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Nürnberg P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
PLoS One ; 13(8): e0202022, 2018.
Article en En | MEDLINE | ID: mdl-30148849
Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk factors in brain disorders. We performed a systematic survey of rare deletions affecting protein-coding genes derived from exome data of patients with common forms of genetic epilepsies. We analysed exomes from 390 European patients (196 GGE and 194 RE) and 572 population controls to identify low-frequency genic deletions. We found that 75 (32 GGE and 43 RE) patients out of 390, i.e. ~19%, carried rare genic deletions. In particular, large deletions (>400 kb) represent a higher burden in both GGE and RE syndromes as compared to controls. The detected low-frequency deletions (1) share genes with brain-expressed exons that are under negative selection, (2) overlap with known autism and epilepsy-associated candidate genes, (3) are enriched for CNV intolerant genes recorded by the Exome Aggregation Consortium (ExAC) and (4) coincide with likely disruptive de novo mutations from the NPdenovo database. Employing several knowledge databases, we discuss the most prominent epilepsy candidate genes and their protein-protein networks for GGE and RE.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eliminación de Gen / Epilepsia Rolándica / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eliminación de Gen / Epilepsia Rolándica / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos