Bobbili, Dheeraj R., Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Jurkowski, Wiktor, Feucht, Martha, Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Krause, Roland ORCID: 0000-0001-9938-7126, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz ORCID: 0000-0002-6998-5480, Feucht, Martha, Steinboeck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Lal, Dennis, Nrnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland ORCID: 0000-0001-9938-7126, May, Patrick ORCID: 0000-0001-8698-3770, Balling, Rudi ORCID: 0000-0003-2902-5650, Lerche, Holger and Neubauer, Bernd A. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur. J. Hum. Genet., 26 (2). S. 258 - 265. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Bobbili, Dheeraj R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
May, PatrickUNSPECIFIEDorcid.org/0000-0001-8698-3770UNSPECIFIED
Reinthaler, Eva M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jabbari, KamelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nothnagel, MichaelUNSPECIFIEDorcid.org/0000-0001-8305-7114UNSPECIFIED
Jurkowski, WiktorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feucht, MarthaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerche, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zimprich, FritzUNSPECIFIEDorcid.org/0000-0002-6998-5480UNSPECIFIED
Krause, RolandUNSPECIFIEDorcid.org/0000-0001-9938-7126UNSPECIFIED
Neubauer, Bernd A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reinthaler, Eva M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zimprich, FritzUNSPECIFIEDorcid.org/0000-0002-6998-5480UNSPECIFIED
Feucht, MarthaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinboeck, HanneloreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neophytou, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geldner, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruber-Sedlmayr, UrsulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haberlandt, EddaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ronen, Gabriel M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nrnberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krause, RolandUNSPECIFIEDorcid.org/0000-0001-9938-7126UNSPECIFIED
May, PatrickUNSPECIFIEDorcid.org/0000-0001-8698-3770UNSPECIFIED
Balling, RudiUNSPECIFIEDorcid.org/0000-0003-2902-5650UNSPECIFIED
Lerche, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neubauer, Bernd A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-197461
DOI: 10.1038/s41431-017-0034-x
Journal or Publication Title: Eur. J. Hum. Genet.
Volume: 26
Number: 2
Page Range: S. 258 - 265
Date: 2018
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1476-5438
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
FRAMEWORK; GENES; VARIANTS; AUTISMMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/19746

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