The largest genetic study of children with certain debilitating types of epilepsy has uncovered dozens of mutations associated with the disease and two genes that have never before been linked to epilepsy, opening new avenues of research into potential treatments.
The results – published Sunday in the journal Nature – are the first from an extensive nationwide project, led by researchers at UCSF and Duke University, to analyze the genomes of children with epilepsy. The findings focused on children with the most severe forms of epilepsy, which often are untreatable and cause major cognitive and developmental disabilities.
The study won’t have an immediate effect on how those epilepsies are treated or diagnosed. But it could lead to new targets for drug therapy and better understanding of all types of epilepsy, which is still in many ways a neurological mystery.
“This broadens our view of the different kinds of neurological pathways that can be altered and lead to epilepsy,” said Dr. Elliott Sherr, a UCSF neurologist who led the study. “This research may point us to different drug therapies. Maybe we could start to screen for these epilepsies before kids get them. Could we potentially treat them with medicine at birth and reduce or even prevent epilepsy?”