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European epilepsy consortium identifies new gene for severe childhood epilepsy
Date:1/22/2014

A European consortium of epilepsy researchers has reported the discovery of a new gene involved in severe childhood epilepsy. Using a novel combination of technologies, including trio exome sequencing of patient/parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs. The discovery of CHD2's role in epilepsy offers new diagnostic tools for families and clinicians of children with Dravet syndrome and related genetic epilepsies. In addition, the creation of a zebrafish model for CHD2 encephalopathy may facilitate the discovery of new drugs that can treat patients with this form of epilepsy.

Dravet syndrome is a severe genetic epilepsy with onset during infancy, with initial seizures often triggered by fever. For most Dravet patients these seizures cannot be treated adequately with currently available anti-epileptic drugs, and therefore the syndrome is classified as pharmacoresistant. Dravet patients usually develop moderate to severe cognitive delays and some features of autism, and are at increased risk of SUDEP (sudden unexplained death in epilepsy). Approximately 80% of Dravet patients have mutations in the gene SCN1A which encodes the Nav1.1 sodium channel, however for the remaining 20% of patients the underlying genetic cause has yet to be determined.

To identify novel genes involved in Dravet Syndrome and other genetic epilepsies, epilepsy clinicians and human geneticists across Europe recently initiated the EuroEPINOMICS RES (Rare Epilepsy Syndromes) consortium. In 2011, the EuroEPINOMICS RES consortium was awarded 2,37 million in funding from the national funding agencies participating in the European Science Foundation program to systematically search fo
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Contact: Kris Van der Beken
kris.vanderbeken@vib.be
32-473-7834
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

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