Childhood Epilepsy - Discovery of new genes

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Friday August 16, 2013

Childhood Epilepsy - Discovery of new genes

In a genetic study of childhood epilepsies, an international team of researchers including Dr. Patrick Cossette at the CHUM Research Centre (CRCHUM), has linked two new genes to severe forms of disease and provides a novel strategy for identifying therapy targets.

Published in Nature, this study used a cutting-edge genetic technique called exome sequencing to search for new, non-inherited mutations.  Exomes essentially represent all of a person’s genes.  The results suggest this may be a highly effective way to find and confirm many disease-causing gene mutations.

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