Overview

What could cause an electrical storm in the brain? Epilepsy researchers seek to find out.

The intense bursts of too much electricity cause events that are known as seizures. Symptoms range in severity from a momentary interruption of normal function to convulsions and loss of consciousness.

While known causes of epilepsy include genetics, trauma, illness and other factors, a definitive cause cannot be found for about 70 percent of the approximately 3 million Americans who suffer from the disease. Research at The Jackson Laboratory focuses on the genetics underlying unusual electrical activity in the brain, with an emphasis on inherited epilepsy. Of particular interest are the genetic mutations associated with absence epilepsy, a form frequently diagnosed in children and characterized by brief losses of consciousness.

Research

Professor Wayne Frankel, Ph.D., and his research team are working to better understand the genetic basis of neurological disorders such as epilepsy, using mice as model organisms. His laboratory's efforts to clone, map and characterize a variety of genes related to neurological function and dysfunction have led to new insights into genetic control of brain function.

"My lab's current focus is on better understanding the role of genetics in epilepsy," Frankel says. "Most common human epilepsies are genetically complex, with likely hundreds of genes involved, but with only a few known. Because of these complexities, the process of understanding the human genetics involved in epilepsy has been quite slow. So we are using mice bred to have epilepsy to study the complexities of this type of disorder, as well as to model some of the few known human mutations."