The Genetics of Epilepsy

Annu Rev Genomics Hum Genet. 2020 Aug 31;21:205-230. doi: 10.1146/annurev-genom-120219-074937. Epub 2020 Apr 27.

Abstract

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic, and immune etiologies; however, in most people with epilepsy, no obvious cause is identifiable. Based initially on family studies and later on advances in gene sequencing technologies and computational approaches, as well as the establishment of large collaborative initiatives, we now know that genetics plays a much greater role in epilepsy than was previously appreciated. Here, we review the progress in the field of epilepsy genetics and highlight molecular discoveries in the most important epilepsy groups, including those that have been long considered to have a nongenetic cause. We discuss where the field of epilepsy genetics is moving as it enters a new era in which the genetic architecture of common epilepsies is starting to be unraveled.

Keywords: GWAS; epilepsy; epilepsy genes; genetics; genome-wide association study; oligogenic models; polygenic risk scores; repeat expansions.