Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Dheeraj R BobbiliDennis LalPatrick MayEva M ReinthalerKamel JabbariHolger ThieleMichael NothnagelWiktor JurkowskiMartha FeuchtPeter NürnbergHolger LercheFritz ZimprichRoland KrauseBernd A NeubauerEva M ReinthalerFritz ZimprichMartha FeuchtHannelore SteinböckBirgit NeophytouJulia GeldnerUrsula Gruber-SedlmayrEdda HaberlandtGabriel M RonenJanine AltmüllerDennis LalPeter NürnbergThomas SanderHolger ThieleRoland KrausePatrick MayRudi BallingHolger LercheBernd A Neubauernull nullPublished in: European journal of human genetics : EJHG (2018)
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.