Genetic-based epilepsy risk scores to promote precision medicine

Researchers led by Cleveland Clinic have developed new genetic-based epilepsy risk scores which could help provide more personalized epilepsy diagnosis and treatment. This research is published in the journal Brain.

Researchers combined all known common genetic variants identified from several large genome wide association study cohorts, which included more than 12,000 people with epilepsy and 24,000 healthy controls, to calculate the polygenic risk scores in more than 8,000 people with epilepsy and 622,000 population controls.

By combining the effect sizes of thousands of common genetic variants, these scores can be used to determine an individual’s risk for epilepsy. Researchers 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.