What are we studying?
Epilepsy currently affects about 1 percent (more than three million) of the population in the U.S. It is classified as a complex common disease: a mixture of conditions that appear at the same time, but may have different causes. Nearly 30% of all epilepsy cases are of unknown origin—they seem to “just happen.” These epilepsies are called Idiopathic Generalized Epilepsies (IGE) and often consist of primary generalized seizures. They are known to have a strong genetic basis.
The epilepsies that we study in the Family Studies of Epilepsy Program are Idiopathic Generalized Epilepsies (IGE), which develop through inherited factors. While we have discovered several important genes related to inherited forms of epilepsy, the mechanisms by which these genes cause epilepsy remain unknown. Why some people within the same family have seizures while others do not is also still unknown.
We hope to pinpoint the location of these genes and determine exactly how they affect people with epilepsy. We then hope to use this knowledge to help improve diagnosis, develop new and breakthrough therapies for epilepsy and improve care of epilepsy patients.
Yet there are many unanswered questions that the Family Studies in Epilepsy Program is studying and attempting to solve:
- What are the genes that predispose people to epilepsy?
- What combination of genes needs to be present for which kinds of seizures?
- Why do some children in the family have one form of generalized seizure disorder, while others have another type and still others do not have seizures?
- Are the genes that cause seizures in different ethnic groups the same?
- How can we use our understanding of genes involved with epilepsy to develop new and better treatments?