Genomics and epilepsy: Opportunities to improve understanding and management

Abstract

Genomics has advanced our understanding of epilepsy through the discovery of the causes of many hundreds of different individual syndromes and the discovery of common variants contributing to the epilepsy risk. Many genomic research studies and clinical genetic laboratories now use advanced sequencing methods, including whole-genome sequencing studies. Such work generates significant amounts of data beyond a possible causal variant alone and can contain information about more complicated genomic contributions to the phenotype, including oligogenic and polygenic influences, modifiers, risk factors for traits such as postictal psychosis, and pharmacogenomic variants of importance to adverse reactions. Extraction of such data will help improve the characterization of each individual's epilepsy, potentially from diagnosis onwards. Newer methods, such as single-cell studies and combinations of genomic data with other data types are now being used. Genomics may also help protect people with epilepsy from climate change challenges. Opportunities from genomics will continue to enhance our understanding and management of epilepsy.