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Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili, Dheeraj R; Lal, Dennis; May, Patrick; Reinthaler, Eva M; Jabbari, Kamel; Thiele, Holger; Nothnagel, Michael; Jurkowski, Wiktor; Feucht, Martha; Nürnberg, Peter; Lerche, Holger; Zimprich, Fritz; Krause, Roland; Neubauer, Bernd A; Reinthaler, Eva M; Zimprich, Fritz; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M; Altmüller, Janine; Lal, Dennis; Nürnberg, Peter; Sander, Thomas; Thiele, Holger; Krause, Roland; May, Patrick; Balling, Rudi; Lerche, Holger; Neubauer, Bernd A.
Affiliation
  • Bobbili DR; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Lal D; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • May P; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Reinthaler EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Jabbari K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Thiele H; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Nothnagel M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Jurkowski W; Cologne Biocenter, Institute for Genetics, University of Cologne, Cologne, Germany.
  • Feucht M; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Lerche H; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Zimprich F; The Genome Analysis Centre, Norwich, UK.
  • Krause R; Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Neubauer BA; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Reinthaler EM; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Zimprich F; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Feucht M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. roland.krause@uni.lu.
  • Steinböck H; Department of Neuropediatrics, Medical Faculty University Giessen, Giessen, Germany. Bernd.A.Neubauer@paediat.med.uni-giessen.de.
  • Neophytou B; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Geldner J; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Gruber-Sedlmayr U; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090, Vienna, Austria.
  • Haberlandt E; Private Practice for Pediatrics, St. Anna Children's Hospital, 1150, Vienna, Austria.
  • Ronen GM; Department of Neuropediatrics, 1090, Vienna, Austria.
  • Altmüller J; Department of Pediatrics, Hospital SMZ Süd Kaiser-Franz-Josef, 1100, Vienna, Austria.
  • Lal D; Department of Pediatrics, Medical University of Graz, 8036, Graz, Austria.
  • Nürnberg P; Department of Pediatrics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
  • Sander T; Department of Pediatrics, McMaster University, Hamilton, L8N3Z5, ON, Canada.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Krause R; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • May P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Balling R; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Lerche H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Neubauer BA; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Eur J Hum Genet ; 26(2): 258-264, 2018 02.
Article in En | MEDLINE | ID: mdl-29358611
ABSTRACT
Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment disappeared after removing ARE patients. For several disease-related gene-sets, an odds ratio >1 was detected for loss-of-function variants.
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Full text: 1 Database: MEDLINE Main subject: Receptors, N-Methyl-D-Aspartate / Epilepsy, Rolandic / Loss of Function Mutation Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Luxembourg
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Full text: 1 Database: MEDLINE Main subject: Receptors, N-Methyl-D-Aspartate / Epilepsy, Rolandic / Loss of Function Mutation Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Luxembourg