Genetic Diagnosis in Epilepsy: Implications for Clinical Management

To describe the clinical implications of genetic diagnoses in epilepsy and the recent advancements in this field.

A genetic diagnosis in epilepsy has been shown to impact clinical management in almost half of individuals, often within three months of diagnosis, with anti-seizure medication recommendations being the most common change. More recently, data from somatic genetic testing in brain tissue has shown the potential to impact prognostic information and medication recommendations. Genetic testing is becoming routine clinical care in epilepsy and is recommended for all individuals with unexplained epilepsy, regardless of age. A monogenic epilepsy diagnosis impacts clinical seizure management and provides additional non-seizure management benefits. The clinical utility of genetic testing will only continue to increase as gene therapies and other precision medicine treatments are approved.