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Melbourne research finds genetic cause for severe childhood epilepsy

2013 May 31

Melbourne researchers have uncovered new genes that cause severe seizure disorders in babies and early childhood.

It is hoped that this discovery will lead to new diagnostic tests and promises improved outcomes.

Epileptic encephalopathies are severe seizure disorders occurring in infants and children. The seizures are accompanied by slow development and intellectual problems.

Clinical study leader, Professor Ingrid Scheffer, who is a paediatric neurologist and researcher from the University of Melbourne and the Florey Institute of Neuroscience and Mental Health said finding the cause of the seizures was the first step in developing treatments.

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

The study published in Nature Genetics, revealed two new genes associated with these severe epilepsies. 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 hypothesized to potentially cause these devastating disorders.

Results revealed that mutations that caused epileptic encephalopathy were found in 52 out of the 500 patients – more than 10% of the study population.

Mutations were found in 15 of the 65 genes, including two new genes, CHD2 and SYNGAP1, which had 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.

Collaborators on the study included geneticists from the University of Washington, US and paediatric neurologists from around Australia, New Zealand, Denmark and Israel. The study was funded by the National Health and Medical Research Council, Australia and the National Institutes of Health, US.

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