Researchers link two newly discovered genetic mutations to childhood epilepsy

(http://www.foxnews.com) Scientists from the Duke University Medical Center have made a breakthrough discovery in the field of childhood epilepsy research. Using new technology called exome sequencing, the researchers identified two genes linked to severe forms of the seizure-causing condition.

Exome sequencing is a form of genome sequencing that gives researchers the ability to selectively sequence important sections of the genome, rather than analyzing all of a person's genes. Using this new technology, the scientists detected mutations in the DNA sequences of 643 children with two forms of childhood epilepsy.

The exome sequences of the children were compared to those of their parents, none of whom had the same condition as their children.

The researchers were then able to reveal six disease-causing genetic mutations using statistical analysis tools. Four of the genes had already been associated with epilepsy, but the other two genetic variations had never been linked to the disease.

"It appears that the time for using this approach to understand complex neurological disorders has arrived," study author David Goldstein, director of the Human Genome Variation Center at Duke University Medical Center, said. "This moderately-sized study identified an unusually large number of disease-causing mutations and provides a wealth of new information for the epilepsy research community to explore."

Goldstein and his team noted that epilepsy-causing genetic mutations were found in genes that are "highly sensitive to changes in their DNA sequence," meaning that the smallest change to the DNA sequence could have drastic effects including death or severe illness.

"We anticipate that further studies will identify many new disease-causing genes and we intend to develop a watch list of the genes which summarizes their clinical characteristics in way [sic] that will be helpful for doctors, patients, and researchers," Goldstein said.