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New genetic factors behind severe childhood epilepsy identified


Researchers have identified 25 new mutations on six key genes associated with severe forms of childhood epilepsy, according to a large-scale international study 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.

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