Results to date
Our study team has made significant progress studying the genetic basis of epilepsy in the nearly thirty years since the project was started. In 1988, we published a gene locus for Juvenile Myoclonic Epilepsy (JME) and determined its approximate location in the genome on chromosome 6. In 2003, we identified the gene as BRD2, a gene whose function and effects was then unknown. (It was the first time anyone had been able to identify the gene location for any common form of epilepsy.)
In 2004, we discovered another gene that appears to be related not just to JME but also to many forms of epilepsy. This gene turned out to be malic enzyme 2 (ME2), located on chromosome 18. We continue to pursue a better understanding of just how BRD2 and ME2 work in the brain and why they are responsible for an increased susceptibility to JME. We also hope to find a way to exploit these findings in the development of antiseizure medication.
One of the things we have learned about BRD2 is that it appears to be an important epilepsy susceptibility gene only in Caucasians—it has not been found to be a cause of epilepsy in nonEuropean countries. However, we do not yet know about nonCaucasian ethnic groups in the United States. Part of our plan for the coming years is to test whether BRD2, as well as other genes that we have identified, also predispose African Americans and people from South and Central America to epilepsy. This will be the first such study anywhere on specific genetic risk factors for epilepsy in Americans of non-European origin.
The progress we have made is leading to a better understanding of the causes of epilepsy in children and young adults. Much work remains to be done, but we remain optimistic about the possibility of finally understanding what it is that causes epilepsy.