Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research

Abstract

While the diagnosis of epilepsy relies on the presence of seizures, it encompasses a group of phenotypically and etiologically diverse disorders in which seizures may only be one of a constellation of symptoms. There are genetic, structural, and metabolic causes, but most epilepsy syndromes have some genetic predisposition. The importance of genetics in the diagnosis and management of epilepsy has been increasingly recognized over the past 2 decades. With increased access to testing tools and new recommendations that all patients with unexplained epilepsy get genetic testing, it is becoming part of routine clinical care. Increased testing has resulted in an explosion in the number of genes and genetic changes identified and it is changing our understanding of the mechanisms of epileptogenesis. Advances in both clinical genetics and scientific discovery are expanding our potential to impact patient care as well as creating dilemmas. This brief review will highlight where we are regarding our ability to obtain a genetic diagnosis, how diagnoses impact patient care, and the next likely frontiers in diagnosis and management.