AsianScientist (Jun. 6, 2013) – A large scientific study has discovered two new genes that are associated with severe seizure disorders that begin in babies and early childhood.
Epileptic encephalopathies are severe seizure disorders occurring in infants and children. The seizures are accompanied by slow development and intellectual problems.
“These children have devastating disorders. Finding the cause is the first step in developing targeted treatments,” said Professor Ingrid Scheffer, pediatric neurologist and researcher from the University of Melbourne and the Florey Institute of Neuroscience and Mental Health, and the clinical leader of the study.
“Overall, our findings have important implications for making a diagnosis in patients, optimizing therapy and genetic counseling for families.”
Using recent advances in genetic testing, the researchers analyzed the genes of 500 children who have epileptic encephalopathies. They analyzed 65 genes, of which 19 had previously been associated with epileptic encephalopathies and 46 were hypothesized to potentially cause these devastating disorders.
The study, published recently in Nature Genetics, revealed that mutations that cause epileptic encephalopathy were found in 52 out of the 500 patients (more than 10 percent of the study population).
Mutations were found in 15 of the 65 genes, including two new genes, CHD2 and SYNGAP1, which have not previously been found to cause epileptic encephalopathies.
“This is a very exciting breakthrough which could lead to dramatic benefits in the lives of the children who suffer this condition,” Scheffer said, adding that the genes will now become a diagnostic test for children with these severe epilepsies and enable genetic counseling in their families.
The article can be found at: Carvill GL et al. (2013) Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
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Source: University of Melbourne.
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