Abstract, published in Epilepsia
Objective: Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, researchers sought to investigate a group of adult patients with epilepsy, to determinate the diagnostic value, and explore the gain of personalized treatment approaches in adult patients.
Methods: Two hundred patients (age span = 18-80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. The medical records of genetically diagnosed patients were examined for data on epilepsy syndrome, cognition, treatment changes, and seizure outcome following the genetic diagnosis.
Results: The team found a genetic diagnosis in 46 of 200 (23%) patients. Mutations in genes that make proteins involved in neuronal communication accounted for the greatest number of positive findings (48%). More rare genetic findings included those that make proteins involved in sugar transport and those that make proteins responsible for turning other genes on or off. Gene-specific treatment changes were initiated in 11 of 46 (17%) patients following the genetic diagnosis. Ten patients improved, with seizure reduction and/or increased alertness and general well-being.
Significance: With this study, researchers show that routine diagnostic testing is highly relevant in adults with epilepsy. The diagnostic value is similar to that previously reported in pediatric patients, and the genetic findings can be useful for therapeutic decision-making, which may lead to better seizure control, ultimately improving quality of life.