Researchers Advocate for Adults with Epilepsy to Receive Genetic Testing if Etiology is Unknown

Study results presented at the 2023 American Epilepsy Society (AES) Annual Meeting underscore the importance of genetic testing in adults with unknown causes of epilepsy. Although genetic testing is common in children with epilepsy, this study demonstrates that genetic testing should be offered to all individuals with epilepsy, regardless of age. This is significant because previous research indicates that a genetic diagnosis leads to a change in care in 20% of those living with epilepsy.

Researchers collected data from the Stanford Research Repository (STARR) database, and analyzed results from 286 individuals aged ≥ 16 years who received a whole exome sequence, epilepsy gene panel, or chromosome microarray genetic test from January 1, 2018 to June 1, 2023.

• At least 1 genetic variant related to epilepsy was found in 41% of individuals.
• Genetic variants unrelated to epilepsy and variants of uncertain significance were found in 2% and 53% of patients, respectively.
• Individuals with developmental delays or seizure onset before 1 year of age had a twofold higher probability of a positive genetic result for epilepsy. 

Yi Li, MD, PhD, lead author of the study and Assistant Professor of Neurology at Stanford University notes “Genetic testing should be considered in adults with epilepsy if the cause of their condition is unknown. Our study highlights a significant real-world delay in genetic testing of about 10 years from the first seizure.”