Genes tied to severe seizure disorders in kids

U. MELBOURNE (AUS) — Scientists have identified two new genes linked to seizure disorders in young children. The conditions often are accompanied by slow development and intellectual problems.

Researchers are hopeful the discovery will lead to new tests to diagnose the conditions, known as epileptic encephalopathies.

“These children have devastating disorders. Finding the cause is the first step in developing targeted treatments,” says Ingrid Scheffer, pediatric neurologist and researcher at the University of Melbourne and the Florey Institute of Neuroscience and Mental Health.


For the study, published in Nature Genetics, researchers analyzed the genes of 500 children who have epileptic encephalopathies.

Using recent advances in genetic testing, researchers analyzed 65 genes of which 19 had previously been associated with epileptic encephalopathies and 46 were hypothesized to potentially cause the disorder.

Results 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 says.

The genes will now become a diagnostic test for children with these severe epilepsies and enable genetic counseling in their families.

Collaborators on the study included geneticists from the University of Washington. The National Health and Medical Research Council, Australia and the US National Institutes of Health funded the research.

Source: University of Melbourne