An international team of researchers led by Cleveland Clinic has developed new genetic-based epilepsy risk scores which may lay the foundation for a more personalized method of epilepsy diagnosis and treatment. This analysis is the largest study of epilepsy genetics to date, as well as the largest study of epilepsy using human samples.
The research team, led by Dennis Lal, Ph.D., calculated for the first time quantitative scores that reflect overall genetic risk for epilepsy, called polygenic risk scores. They showed that these scores can accurately distinguish on a cohort level between healthy patients and those with epilepsy, as well as between patients with generalized and focal epilepsies.
After the first seizure, it can be difficult for clinicians to predict which patients will go on to develop epilepsy. Development of these novel genetic risk scores could help clinicians to intervene and treat patients earlier.
“The fact that we can now identify people at high risk for epilepsy, and even start to distinguish between the two main types of epilepsy, based on genetic scores is really exciting,” said Lal, the study’s lead author. “These landmark results set the stage for an entirely new direction of epilepsy research.”