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Study Closes in On Identifying Genetic Cause for Childhood Epilepsy

Update Date: May 27, 2013 12:11 PM EDT

Children who suffer from severe epilepsies, known as epileptic encephalopathies have been tied to having intellectual complications as well as overall slower development in comparison to children who do not have these seizure disorders. Scientists currently do not know the exact biological mechanisms that cause these debilitating seizure disorders. In a new study, the clinical leader, pediatric neurologist Professor Ingrid Scheffer from the University of Melbourne and the Florey Institute of Neurocience and Mental Health, found new genes that could be linked to causing these epileptic episodes in infants and toddlers.

"Overall, our findings have important implications for making a diagnosis in patients, optimizing therapy and genetic counseling for families," Scheffer stated according to Medical Xpress.

The research team analyzed the data compiled from 500 children with epileptic encephalopathies. The researchers used advanced genetic testing that allowed them to perform a next generation sequencing of a gene panel. The researchers focused on 65 genes, 19 of which have been linked to epileptic encephalopathies and 46 of which were theorized to be potentially linked to the devastating disorders. The team discovered that over 10 percent of the sample set, which was 52 out of 500 patients, had genetic mutations tied to the disorders. The researchers reported that there are 15 out of the 65 genes tied to epileptic encephalopahties, with two new ones, CHD2 and SYNGAP1 added.

"This is a very exciting breakthrough which could lad to dramatic benefits in the lives of the children who suffer this condition," Scheffer said. The researchers hope that these new genes could help with genetic screenings for children who could be at risk.

The findings were published in Nature Genetics.

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