The genetic causes of some of the most devastating childhood epilepsies have been revealed in a landmark study jointly led by Australian researchers.
Using advanced gene technology researchers have discovered new genes and new genetic mutations that cause severe childhood epilepsy.
The study’s co-leader Professor Sam Berkovic, Director of the Epilepsy Research Centre at the University of Melbourne and Melbourne’s Austin Hospital, said as well as providing a pathway to treating epilepsy the research provides answers to patients and families who previously had little or no idea where epilepsy had come from.
“Parents often have a belief that they’ve done something wrong that caused this disease,” Prof Berkovic said.
“Not knowing why has been one of the most frustrating things … we’ve never really had the answer. Now we do.
“This also stops the need for further searching and refines the treatments.”
A key aspect of the research has been the ability to sequence the entire human genome, Prof Berkovic said.
“Until now we’ve had these complex patients and we didn’t know what was going on,” he said.
“Now all the genes are known and the jigsaw can be completed”
As well as using the latest genetic techniques to sequence and analyse DNA from 4000 epilepsy patients and their relatives, the study known as Epi4Ks shared DNA sequences and patient information among dozens of research institutions.
The researchers compared the exomes, or the complete sets of genes, of 264 children with the sequences of their parents who do not have epilepsy.
Differences in the sequences of parents and children were analysed to identify potential disease causing mutations.
The study’s other joint leader Dr David Goldstein, the Director of the Human Genome Variation Center at Duke University Medical Center in the US, said his team’s work identified an unusually large number of disease-causing mutations and provided a wealth of new information.
“We are now headed toward a future where we can find out why people have this disease and tailor the treatment of it,” Dr Goldstein said.
“It establishes a clear path to the genetic explanation of epilepsy.”
Epilepsy is a brain condition that affects an estimated 50 million people worldwide.
The research is published in the international scientific journal Nature. [AAP]