Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy Academic Article uri icon

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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.

authors

  • Bobbili, Dheeraj R
  • Lal, Dennis
  • May, Patrick
  • Reinthaler, Eva M
  • Jabbari, Kamel
  • Thiele, Holger
  • Nothnagel, Michael
  • Jurkowski, Wiktor
  • Feucht, Martha
  • Nürnberg, Peter
  • Lerche, Holger
  • Zimprich, Fritz
  • Krause, Roland
  • Neubauer, Bernd A
  • Reinthaler, Eva M
  • Zimprich, Fritz
  • Feucht, Martha
  • Steinböck, Hannelore
  • Neophytou, Birgit
  • Geldner, Julia
  • Gruber-Sedlmayr, Ursula
  • Haberlandt, Edda
  • Ronen, Gabriel
  • Altmüller, Janine
  • Lal, Dennis
  • Nürnberg, Peter
  • Sander, Thomas
  • Thiele, Holger
  • Krause, Roland
  • May, Patrick
  • Balling, Rudi
  • Lerche, Holger
  • Neubauer, Bernd A

publication date

  • February 2018