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Researchers discover 2 new genetic mutations linked to childhood epilepsy

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Using new genetic technology, scientists have made a breakthrough discovery in the field of childhood epilepsy research – identifying two new genes linked to severe forms of the seizure-causing condition, Medical News Today reported.

In a study published in the journal Nature, researchers from Duke University Medical Center used exome sequencing to detect mutations in the DNA sequences of 264 children with two forms of childhood epilepsy – infantile spasms and Lennox-Gastaut Syndrome.  Exome sequencing is a form of genome sequencing that allows researchers to selectively sequence important sections of the genome, rather than analyze a person’s entire genetic makeup.

The children’s exome sequences were compared to those of their parents – none of whom suffered from the same neurological condition as their children.   

Using various statistical tools, the researchers uncovered six disease-causing genetic mutations, four of which had been previously associated with epilepsy.  Two of the genetic variations had never before been linked to the disease.

"It appears that the time for using this [genome] 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 also found that the epilepsy-causing genetic mutations were involved in genes that are “highly sensitive to changes in their DNA sequence,” meaning the smallest change to their DNA sequences could render the genes completely ineffective.   This could potentially lead to death or other severe illnesses.

The researchers hope that further studies utilizing exome sequencing will reveal more disease-cause genes.

"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 that will be helpful for doctors, patients, and researchers," Goldstein said.

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