Biostatistics

The discovery of the first gene linked to the most common form of epilepsy challenges the prevailing view of the origins of the disease. The ELP4 gene, discovered in the laboratory of David A. Greenberg, Professor of Biostatistics (in Psychiatry), leads researchers to believe that epilepsy likely stems from the way the brain’s neurons connect to each other during development, instead of stemming from changes in the brain’s ion channels, as previously thought.

The finding is the first step in unlocking the causes of common childhood epilepsies (the most common of which is called Rolandic epilepsy) and developing more effective treatments. Understanding how the ELP4 gene is related to the brainwave pattern may help researchers uncover the causes of other disorders such as attention deficit hyperactivity disorder (ADHD), speech dyspraxia, and developmental coordination disorder (DCD). Children with these developmental disorders often have the same spiky brainwave pattern that is present in children with Rolandic epilepsy.

Dr. Greenberg was joined on the study by pediatric neurologist Deb Pal, M.D., Ph.D., Department of Psychiatry at the College of Physicians and Surgeons and in the Division of Statistical Genetics at the Mailman School of Public Health and Lisa Strug, Ph.D., formerly an assistant professor Columbia University Mailman School of Public Health’s Department of Biostatistics, Division of Statistical Genetics. The study was supported by members of the Partnership for Pediatric Epilepsy Research; The Epilepsy Foundation; and the NIH.