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

r novel genes for seizure disorders.

As part of these ongoing research activities, the DNA of Dravet patients without SCN1A mutations was analyzed by trio exome sequencing, which searches across the active parts of the genome for de novo mutations that have arisen in these patients (de novo mutations are DNA copying errors that occur in the parents' gametes or in the fertilized egg or embryo, resulting in the afflicted family member being the first person in their family to have this genetic condition). In a group of 9 such patients, this analysis of their DNA (and the DNA of their parents) resulted in the identification of 2 patients with de novo mutations in CHD2, which stands for chromodomain helicase DNA binding protein 2. A third patient with a CHD2 mutation was subsequently identified as well.

To confirm that mutations in CHD2 cause the epilepsy observed in these patients, the same gene was then functionally analyzed in the tiny larvae of zebrafish, which have emerged in the last decade as a powerful animal model for the study of epilepsy. In the case of CHD2, scientists collaborating with the EuroEPINOMICS RES consortium used antisense technology to rapidly generate zebrafish larvae with a partial loss of function of this gene, and were then able to detect epileptic seizures in these animals using electrographic analysis (this method is very similar to electroencephalography, or EEG, which is used to analyze seizures in humans).

The genetic analysis was led by Peter De Jonghe, head of the Neurogenetics Group of the VIB Department of Molecular Genetics at the University of Antwerp (Antwerp, Belgium) and the epilepsy genetics group in Kiel, headed by Ingo Helbig (Dept. of Neuropediatrics, University of Kiel, Germany). Peter De Jonghe: "This research reinforces our belief that trio sequencing enables us to unravel the genetic background of syndromes which occur spontaneously. Previously, investigations into the genetic causes of syndr
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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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