19 July 2021

Epilepsy researchers from Austin Health and University of Melbourne have secured almost $3 million in funding from the Medical Research Future Fund to discover the causes of the most devastating forms of epilepsy, called the developmental and epileptic encephalopathies (DEEs).

The revolutionary work led by Associate Professor Michael Hildebrand alongside Laureate Professors Ingrid Scheffer, Sam Berkovic and Associate Professor Piero Perucca will shine light on the causes of these severe diseases.

Professor Scheffer, a world expert in DEEs, noted that patients with DEEs have developmental impairment with a high risk of early death.

“These are the most severe group of epilepsies and patients have frequent, uncontrolled seizures with a mortality of approximately one in five by 20 years,” Prof Scheffer said.

“They are caused by abnormalities in over 300 genes but in 2021, the cause for 50% of patients with DEEs remains unsolved.

“The Developmental and Epileptic Encephalopathies-Diagnosis study has been supported by this grant and we will use the latest technologies such as genome sequencing to study 600 patients with unsolved DEEs.

“The novel genetic testing methods will enable patients and their families to understand the cause of their epilepsy and lead to targeted treatments to improve outcomes,” she said.

The Director of Austin Health’s Comprehensive Epilepsy Program, A/Prof Perucca, said the research is a collaboration between a number of institutions including Austin Health, University of Melbourne, Water and Eliza Hall Institute of Medical Research, and the Murdoch Children’s Research Institute.

“This grant is fantastic news for patients with severe forms of epilepsy and their caregivers, as it provides the opportunity to find a genetic cause for their epilepsy,” A/Prof Perucca said.

“This will in turn improve patient counselling and management and will enable patients to be cared for using precision therapies.

“Congratulations to Michael and the rest of the research team,” he said.