Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Bobbili, DR; Lal, D; May, P; Reinthaler, EM; Jabbari, K; Thiele, H; Nothnagel, M; Jurkowski, W; Feucht, M; Nürnberg, P; Lerche, H; Zimprich, F; Krause, R; Neubauer, BA; Reinthaler, EM; Zimprich, F; Feucht, M; Steinböck, H; Neophytou, B; Geldner, J; Gruber-Sedlmayr, U; Haberlandt, E; Ronen, GM; Altmüller, J; Lal, D; Nürnberg, P; Sander, T; Thiele, H; Krause, R; May, P; Balling, R; Lerche, H; Neubauer, BA; EUROEPINOMICS COGIE Consortium.
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet. 2018; 26(2):258-264
Doi: 10.1038/s41431-017-0034-x
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- Co-Autor*innen der Med Uni Graz
- Gruber-Sedlmayr Ursula
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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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Child -
- Epilepsy, Rolandic - genetics
- Epilepsy, Rolandic - pathology
- Exome -
- Female -
- Humans -
- Loss of Function Mutation -
- Male -
- Receptors, N-Methyl-D-Aspartate - genetics