Asian Scientist (Aug. 20, 2013) – An international team of researchers has identified new genetic mutations that cause epilepsy, paving the way for better treatment for the most severe forms of epilepsy.
The global study, published in Nature, used exome sequencing to identify new genes that cause severe childhood epilepsies.
Exomes essentially represent all of a person’s genes. Their DNA sequences provide the instructions for constructing all the proteins made by the body.
The research is part of a $25 million worldwide project, known as Epilepsy 4000 (Epi4K), that analyzed 4,000 genomes from epilepsy patients around the world.
The researchers compared exome sequences of 264 children with the sequences of their parents who do not have epilepsy. Differences in the sequences of these subject trios were analyzed using a number of statistical tools to identify potential disease causing mutations.
Through their analysis, the researchers discovered two new genes and 25 epilepsy-causing mutations. The findings suggest there will be common pathways to target epilepsies with drugs and other therapies.
The researchers estimated that up to 90 genes could carry epilepsy-causing mutations and that many of the mutations implicated in the risk of epilepsy have been previously associated with other neurodevelopmental diseases, including autism.
Professor Sam Berkovic, a co-leader of the study, said the study was a major conceptual advance in how we analyze epilepsies, helping researchers to better identify their genetic causes and improve treatment options.
“These findings will help to fast track discoveries of the genetic causes of some of the most devastating childhood epilepsies, many of which had been previously unknown,” he said.
The article can be found at: Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) De Novo Mutations In Epileptic Encephalopathies.
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Source: University of Melbourne.
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