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Published: 28 May 2013

Genetic cause for childhood epilepsies

A large scientific study has discovered new genes causing severe seizure disorders that begin in babies and early childhood.

Paediatric neurologist and researcher Professor Ingrid Scheffer from the University of Melbourne and the Florey Institute of Neuroscience and Mental Health, and the clinical leader of the study said: 'These children have devastating disorders. Finding the cause is the first step in developing targeted treatments.

'Overall, our findings have important implications for making a diagnosis in patients, optimising therapy and genetic counselling for families,' she said.

Epileptic encephalopathies

The study published in Nature Genetics (26 May) revealed two new genes associated with these severe epilepsies known as epileptic encephalopathies. They are accompanied by slow development and intellectual problems.

In the study, researchers analysed the genes of 500 children who have epileptic encephalopathies. Using recent advances in genetic testing, next generation sequencing of a gene panel was performed. Researchers analysed 65 genes of which 19 had previously been associated with epileptic encephalopathies and 46 were hypothesised to potentially cause these devastating disorders.

Gene mutations

Results revealed that mutations that cause epileptic encephalopathy were found in 52 out of the 500 patients (more than 10 per cent 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,' Professor Scheffer said.

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