Study identifies new genetic factors behind severe childhood epilepsy

A large -scale international study by researchers identified 25 new mutations on six key genes associated with severe forms of childhood epilepsy. The study is largely funded by the U.S. National Institutes of Health.

The study, part of a project involving more than 40 international institutions, used a cutting-edge genetic technique, called exome sequencing, to search for non-inherited mutations linked to epileptic encephalopathies in 264 children whose parents who do not have epilepsy.

“We identified an unusually large number of distinct disease- causing mutations — 25 in total, all of which were de novo (brand new) mutations,” study author David Goldstein, director of the Human Genome Variation Center at the Duke University Medical Center, in a statement.

The study known as Epilepsy 4000 (Epi4K) found a total of six genes behind the devastating form of the disorder: four had been described before using other genetic techniques and two genes are implicated for the first time.

Epilepsy is a group of neurological disorders caused by abnormal firing of nerve cells in the brain which often produces debilitating seizures and a range of other symptoms. More than 2 million people in the United States suffer from epilepsies, and infants and children have a greater chance of having the disorders than adults.

Although some studies have found genes associated with rare inherited forms of epilepsy, finding genes associated with the majority of epilepsies has been difficult.

The new results, described in the journal Nature, suggest the new technique called exome sequencing may be a highly effective way to find and confirm many gene mutations that cause neurological disorders, the researchers said.

“It appears that the time for using this approach to understand complex neurological disorders has arrived,” said David. “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.” (PNA/Xinhua)

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