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

omes such as Dravet Syndrome were not feasible. These types of investigations were only possible by screening large families and seeing how a disorder was passed along. But in disorders such as Dravet Syndrome, this did not work since the children were so seriously ill that they themselves never went on to have their own children. So this new technology also opens up new perspectives in the search for the genetic background of many disorders."

Ingo Helbig adds that "the epileptic encephalopathies pose a major clinical problem as most children have treatment-resistant epilepsy, intellectual disability and many other medical issues. We hope that identifying the underlying genetic cause will help us find better treatment options for the affected patients. In the past, we were not able to identify the reason why children have severe epilepsy. The discovery of CHD2 as the culprit gene in a subset of children with epileptic encephalopathy is a major step for us."

The zebrafish research was led by Camila Esguerra of the Laboratory for Molecular Biodiscovery of University of Leuven (Leuven, Belgium). She commented: "Our previous research to validate zebrafish as a model for epilepsy put us in a good position to be able to help the EuroEPINOMICS consortium investigate the function of CHD2. The zebrafish larva is an ideal model to study genes involved in epilepsy, and the methods necessary for such studies are now well-established in our laboratory. Looking forward, our zebrafish models of pharmacoresisant epilepsy are well-suited for large-scale pharmacological screens to find new anti-epileptic drugs."

The Dravet Syndrome Foundation EU (DSF-EU, Madrid, Spain) is a patient organization dedicated to finding a cure for Dravet Syndrome, and also works to promote awareness of the disease and to help families of Dravet patients. Julian Isla, Executive Director of DSF-EU, stated: "One of the most important things for patients with genetic disorders an
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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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