“We already knew that mutations in the molecule known as Munc18-1 triggered this rare epileptic syndrome, but this ground-breaking study led by PhD student Ye Jin Chai has isolated the exact process,” Professor Meunier said.
“We’ve now determined that Munc18-1 mutations lead to clumping of a protein called α-Synuclein, which is toxic to the brain.”
Professor Meunier said these protein clumps were similar to the protein build-up in the brain of Parkinson’s disease patients.
“This deepens our understanding of a distressing disorder and opens the door for new potential treatments,” he said.
More than 400,000 Australians suffer from some form of epilepsy. Infantile epileptic encephalopathy is a rare but severe disorder in babies and half will die within their first year of life.