Epilepsy Gene Identified in Amish

Scientists studying an Amish population in Pennsylvania have identified a gene nutation they believe is associated with epilepsy, autism and mental retardation.

Physicians at the Pennsylvania clinic isolated DNA from four of the affected children and their six parents and, in collaboration with TGen, identified a mutation that causes the gene to abnormally produce a protein called CASPR2.

For the first time, researchers showed that the protein plays an important role in early human brain development, said Dr. Erik Puffenberger, laboratory director at the Clinic for Special Children.

"Although these patients were from an isolated population, we anticipate that CASPR2 mutations will be found in children from other populations with mental retardation, seizures and autism," he said.

The study one in a series of promising results scientists have gleaned from Amish people.

This is interesting work, but like most genetic discovereis it's a little unsatisfying. Scientists have a long way to go before they can devise a treatment based on this finding. The AP story also says:

The discovery of the protein-related mutation in the clinic's Amish patients has already allowed doctors to identify at-risk newborns before they show symptoms, said Dr. Holmes Morton, the clinic's medical director.

"Our hope is that early treatment and prevention of prolonged seizures in these infants will lessen the effects of the disorder upon the lives of the children and their families," he said.

But it's still not clear to me what doctors can to for these kids. Are there any medical types out there reading this who could enlighten us?

A quilt is raised up for bidders to see at the auction to benefit the Clinic for Special Children in July 2004. Image courtesy Genome News Network.