International team discovers gene associated wit...(ion in the PRICKLE1 gene in the family m...)

To verify that the mutation might be related to the epilepsy, the team needed to test it in an animal model. This next step to find a suitable animal model involved a surprising coincidence: Bassuk, who had only recently joined the UI, realized through online research that the PRICKLE1 gene in zebrafish had been previously identified by another University of Iowa researcher, Diane Slusarki, Ph.D., associate professor of biology in the UI College of Liberal Arts and Sciences.

"I walked across the river to Diane's side of campus, and we designed an experiment to test the human mutation in the zebrafish," Bassuk said. It was 'Iowa luck.'"

Slusarki and Bassuk's collaboration revealed that the mutated PRICKLE1 gene does not behave normally in zebrafish. Bassuk noted that collaboration, whether on-campus or international, was essential to the success of the research study.

"We never could have done, or could continue to do this type of research, with just one person thinking about it," he said. "From the clinicians who found and took histories on the study participants, to antibody testing at Stanford University to DNA shared from colleagues in Japan, the study required a lot of collaboration and coordination. And of course, we greatly appreciated the participation of the Mideastern families."

Bassuk, and colleagues are now developing other animal models to investigate how PRICKLE1 gene is involved in epilepsy, and are investigating whether PRICKLE1 mutations are involved in the general population of patients with epilepsy. With that information, there is potential to develop new drugs for people with different forms of epilepsy in the general population, as well as for the study participants with the disease.

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