Arizona Biosciences News

TGen researchers help identify genetic cause of epilepsy

Compiled from media reports
Tags: epilepsy, tgen

Summary:

Researchers at the Translational Genomics Research Institute (TGen), in partnership with a Pennsylvania-based clinic, have identified a genetic cause for epilepsy and discovered a new childhood-onset disorder.

Full Story:

Researchers at the Translational Genomics Research Institute (TGen), in partnership with a Pennsylvania-based clinic, have identified a genetic cause for epilepsy and discovered a new childhood-onset disorder.

Dietrich Stephan, director of the neurogenomics division of TGen told the East Valley Tribune that this discovery is the first step toward finding a cure for these diseases.

The finding, by TGen and the Clinic for Special Children in Strasburg, Pa., was published in the March 30 issue of the New England Journal of Medicine. The article describes the newly discovered disorder, called "cortical dysplasia-focal epilepsy syndrome," found in a group of closely related Old Order Amish children from Pennsylvania. It is characterized by severe epilepsy and autistic traits.

Physicians in Pennsylvania isolated DNA from four of the affected children and their six parents. They then collaborated with TGen to identify the genetic mutation that causes the disease.

Stephan told the East Valley Tribune that the next step for researchers is to develop drugs to prevent the disease by altering how the brain reacts to the mutation.


For more information:

"TGen, Pa. clinic find gene tie to epilepsy," East Valley Tribune, 03/30/2006

TGen Press Release