Genome wide association studies (GWAS) and common forms of human epilepsy

Abstract

Several GWAS focused on common forms of epilepsy are underway. Currently, only one locus has been published that reached genome wide statistical significance. Two other loci that also reach genome wide statistical significance have been reported as preliminary data and are awaiting publication. Several additional loci identified in these studies fall just short of statistical significance, and it is hoped that future large scale meta-analyses will confirm these early findings and identify new loci that influence common forms of human epilepsy. Next generation DNA sequencing (NGS) studies are also underway and in the future will identify rare DNA variations of large effect that also contribute to the final epilepsy phenotypes under study. Finally, these studies have the potential to identify biomarkers of antiepileptic drug (AED) response as epilepsy patient GWAS and NGS data are stratified based on AED efficacy and tolerability.