Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.
Dianalee McKnightSara L BristowRebecca M TrutyAna MoralesMolly StetlerM Jody WestbrookKristina RobinsonDarlene RiethmaierFelippe BorlotMarissa KelloggSean T HwangAnne T BergSwaroop AradhyaPublished in: Neurology. Genetics (2021)
These data reinforce the utility of genetic testing for adults with epilepsy, particularly for those with childhood-onset seizures, ID, and pharmacoresistance. This is an important consideration due to longer survival and the complexity of the transition from pediatric to adult care. In addition, more than half of diagnostic findings in this study were considered clinically actionable, suggesting that genetic testing could have a direct impact on clinical management and outcomes.