Journal article
Authors list: Bobbili, Dheeraj R.; Lal, Dennis; May, Patrick; Reinthaler, Eva M.; Jabbari, Kamel; Thiele, Holger; Nothnagel, Michael; Jurkowski, Wiktor; Feucht, Martha; Nuernberg, Peter; Lerche, Holger; Zimprich, Fritz; Krause, Roland; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; 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; May, Patrick; Balling, Rudi; Lerche, Holger; Neubauer, Bernd A.
Publication year: 2018
Pages: 258-264
Journal: European Journal of Human Genetics
Volume number: 26
Issue number: 2
ISSN: 1018-4813
eISSN: 1476-5438
Open access status: Green
DOI Link: https://doi.org/10.1038/s41431-017-0034-x
Publisher: Springer Nature [academic journals on nature.com]
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.
Citation Styles
Harvard Citation style: Bobbili, D., Lal, D., May, P., Reinthaler, E., Jabbari, K., Thiele, H., et al. (2018) Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy, European Journal of Human Genetics, 26(2), pp. 258-264. https://doi.org/10.1038/s41431-017-0034-x
APA Citation style: Bobbili, D., Lal, D., May, P., Reinthaler, E., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nuernberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B., Reinthaler, E., Zimprich, F., Feucht, M., Steinboeck, H., Neophytou, B., ...Neubauer, B. (2018). Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. European Journal of Human Genetics. 26(2), 258-264. https://doi.org/10.1038/s41431-017-0034-x
Keywords
VARIANTS
