A new gene associated with the brain disorder epilepsy has been found in an international study led by the University of Iowa. Dr. Alex Bassuk, a UI pediatrics professor and lead author of the study, says the genetic research involved two-dozen institutions in six countries. "It’s a gene called ‘PRICKLE1’ and it’s a gene that never really has been examined in epilepsy at all," Bassuk says. "No one has ever considered it as an epilepsy gene which is potentially exciting as a new avenue of thinking about epilepsy and the treatment of epilepsy."
In a person who is epileptic, nerve cells in the brain signal abnormally and cause seizures that can bring severe muscle spasms and loss of consciousness. There’s currently no cure for epilepsy, but medications can control the symptoms. Bassuk says the discovery of this gene is a new piece in the puzzle. Bassuk says, "Since no one has ever looked at this particular gene or this kind of gene, we can start thinking about drugs or therapeutic agents directed specifically at those genes as new medicines to treat seizures."
The genetic disorder is passed from parent to child and Bassuk says researchers identified the rare form in just a few families, all living in the Middle East. He says, "The particular kind of epilepsy we’ve described in these three families is quite rare so really our next order of business is to see if this rare form of epilepsy is actually involved in the more common epilepsy that we see in the general population." Nine families were involved in the study, all in the Middle East and all from one of three family lines. Of the 47 individuals in the three family lines, 23 had a form of progressive epilepsy. Researchers from Israel, Jordan, Japan, Australia and Qatar also took part. The study is to appear in the American Journal of Human Genetics.