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Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Author information

1
Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
2
Cologne Center for Genomics, University of Cologne, Cologne, Germany.
3
Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
4
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
6
Department of Neurology, Medical University of Vienna, Vienna, Austria.
7
Cologne Biocenter, Institute for Genetics, University of Cologne, Cologne, Germany.
8
The Genome Analysis Centre, Norwich, UK.
9
Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
10
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
11
Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. roland.krause@uni.lu.
12
Department of Neuropediatrics, Medical Faculty University Giessen, Giessen, Germany. Bernd.A.Neubauer@paediat.med.uni-giessen.de.
13
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090, Vienna, Austria.
14
Private Practice for Pediatrics, St. Anna Children's Hospital, 1150, Vienna, Austria.
15
Department of Neuropediatrics, 1090, Vienna, Austria.
16
Department of Pediatrics, Hospital SMZ Süd Kaiser-Franz-Josef, 1100, Vienna, Austria.
17
Department of Pediatrics, Medical University of Graz, 8036, Graz, Austria.
18
Department of Pediatrics, Medical University of Innsbruck, 6020, Innsbruck, Austria.
19
Department of Pediatrics, McMaster University, Hamilton, L8N3Z5, ON, Canada.
20
Department of Neuropediatrics, Medical Faculty University Giessen, Giessen, Germany.

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.

PMID:
29358611
PMCID:
PMC5839048
DOI:
10.1038/s41431-017-0034-x
[Indexed for MEDLINE]
Free PMC Article

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