The largest and most diverse study to date of epilepsy's genetic factors has revealed new potential targets for treatment, both shared by and unique to different subtypes of epilepsy. The findings point to factors involved in how neurons communicate and fire, suggesting potential targets for new therapies. In the future, the results could also help doctors tailor treatments to a patient's genome.
Epilepsy is one of the most common neurological disorders. Scientists have long known that genetics play a major role in epilepsy risk, but identifying all of the specific genetic contributions has been challenging, and previous studies have focused on just one or a few genes at a time. Epilepsy also has several subtypes, and while one group called developmental encephalopathies has been connected to several genes, other forms of the disease are less well understood.
The study, published in Nature Neuroscience , comes from the Epi25 Collaborative, a group of over 200 researchers around the world working to uncover the genetic basis of epilepsy. It builds on previous work by the group using ever-larger cohorts of participants, now up to more than 54,000 people—nearly double previous studies. The researchers—led by Benjamin Neale, co-director of the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard and a core faculty member of the Analytic and Translational Genetics Unit at Massachusetts General Hospital; and Samuel Berkovic, a professor of medicine .