New genes identified with key role in the development of severe childhood epilepsies.

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In the largest collaborative study so far, an international team of researchers from the European EuroEPINOMICS consortium, including scientists from VIB and Antwerp University identified novel causes for severe childhood epilepsies. The researchers analyzed the genetic information of 356 patients and their parents. In their analysis, the research teams looked for genes that had acquired new mutations in the children with severe epilepsies when compared to the DNA of the parents.  The results of the opensource study were published in the American Journal of Human Genetics.

In total, they identified 429 new mutations and in 12% of children, these mutations were considered unequivocally causative for the patient’s epilepsy. In addition to several known genes for childhood epilepsies, the research team found strong evidence for additional novel genes, many of which are involved in the function of the synapse, the main structure in the nervous system that allows for communication…

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