Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Abdulrahman H Al AnaziAhmed S AmmarMahmoud Al-HajjCyril CyrusDanah AljaafariIname KhodaAhmed K AbdelfatahAbdullah A AlsulaimanFiras AlanaziRawan AlanaziDivya GandlaHetal LadSamar BarayanBrendan J KeatingAmein K Al-AliPublished in: Human genomics (2022)
Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.