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Home News News Year 2013 Genetic Trigger for Epilepsy Discovered

Genetic Trigger for Epilepsy Discovered

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Researchers at the University Department of Neurology at the MedUni Vienna have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) epilepsies.

With the so-called “next generation sequencing”, with which genetic changes can be identified within a few days, it was ascertained that the CNTN2 gene is defective in this type of epilepsy.

Aarogya news

This was investigated by a team led by Elisabeth Stogmann in collaboration with Cairo’s Ain Shams University and the Helmholtz Centre Munich with reference to a particular Egyptian family with five sick children.

The children affected suffer from a epilepsy syndrome, in which different types of epileptic attacks occur. 20,000 to 25,000 genes, including all the “protein coding” ones, were sequenced for this. When this was done a mutation was found in the CNTN2 gene.

CNTN2 undertakes an important function in the anchoring of potassium channels to the synapses. The mutation makes it no longer possible to generate this protein and, as a consequence, the potassium channels no longer remain affixed to the synapses.

The researchers suspect that the epilepsy in this family is triggered by the altered function of the potassium channels.


Pune Mirror
19 April 2013

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