Largest study ever reveals genetic risk factors behind severe epilepsy
Washington: A new study sheds light on why some people with an elevated risk for epilepsy never get the disease and why certain medications work better for some patients than others.
Though well-known that many forms of epilepsy are strongly influenced by genetics, there has been relatively little progress in identifying the genetic differences that contribute to most forms of epilepsy.
"For generations we have been treating most forms of generalized epilepsies with no idea what causes the disease. Now, for the first time, we have identified clear genetic risk factors in patients with severe epilepsy," study co-author Ruben Kuzniecky, MD, professor of neurology at NYU Langone Medical Center, where he serves as co-director of the NYU Comprehensive Epilepsy Center and director of epilepsy research, said.
The findings are the first to emerge from the largest investigation into the genetics of epilepsy ever conducted.
"This project is one of the most ambitious undertakings in our field," Dr. Kuzniecky said.
"It won`t be long before it leads to genetic tools that will help us diagnose patients more accurately and tailor treatments specific to their form of epilepsy," he said.
The goal of the project is to find molecular targets that will transform the way epilepsy, a neurological condition characterized by abnormal electrical activity in the brain that causes chronic seizures, is diagnosed and treated.
The study is published in the journal Nature.