A University of Iowa-led international research team has found a new gene associated with the brain disorder epilepsy. While the PRICKLE1 gene mutation was specific to a rare form of epilepsy, the study results could help lead to new ideas for overall epilepsy treatment.
The findings, which involved nearly two dozen institutions from six different countries, appear in the Nov. 7 issue of the American Journal of Human Genetics.
In epilepsy, nerve cells in the brain signal abnormally and cause repeated seizures that can include strange sensations, severe muscle spasms and loss of consciousness. The seizures may not have lasting effects but can affect activities, such as limiting a person's ability to drive. Most seizures do not cause brain damage but some types of epilepsy lead to physical disabilities and cognitive problems. Medications can control symptoms, but there is no cure.
"The study results were surprising not only because the PRICKLE1 gene had never been associated with epilepsy but also because the gene was not associated with any other human disease," said the study's lead author Alex Bassuk, M.D., Ph.D., assistant professor of pediatrics at the University of Iowa Carver College of Medicine and a pediatric neurologist with University of Iowa Children's Hospital.
The nine families involved in the study all lived in the Middle East and came from one of three family lines. Of the 47 individuals in the three family lines, 23 had a form of progressive myoclonus epilepsy accompanied by ataxia -- a condition that causes imbalance.
One family line has been extensively described by Hatem El-Shanti, M.D., a University of Iowa adjunct professor of pediatrics who now leads genetics research for the country of Qatar. The two other family lines had been researched by Sam Berkovic, M.D., at the University of Melbourne in Australia.
"By sharing and analyzing data sets, we realized there was a common mutat
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University of Iowa