Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
Autor/innen
- D.R. Bobbili
- D. Lal
- P. May
- E.M. Reinthaler
- K. Jabbari
- H. Thiele
- M. Nothnagel
- W. Jurkowski
- M. Feucht
- P. Nürnberg
- H. Lerche
- F. Zimprich
- R. Krause
- B.A. Neubauer
- E.M. Reinthaler
- F. Zimprich
- M. Feucht
- H. Steinböck
- B. Neophytou
- J. Geldner
- U. Gruber-Sedlmayr
- E. Haberlandt
- G.M. Ronen
- J. Altmüller
- D. Lal
- P. Nürnberg
- T. Sander
- H. Thiele
- R. Krause
- P. May
- R. Balling
- H. Lerche
- B.A. Neubauer
Journal
- European Journal of Human Genetics
Quellenangabe
- Eur J Hum Genet 26 (2): 258-264
Zusammenfassung
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.