December 15, 2022

Gene Therapy Offers Hope for Severe Epilepsy

Article published by Macquarie University

A study published this month in Science Advances by a team of researchers at Macquarie University’s Dementia Research Centre showed their treatment could prevent seizures in mice by clearing build ups of a protein in the brain.

Epilepsy is the most common neurological disorder worldwide, affecting about 70 million people. Two-thirds of those with severe epilepsy can be treated with traditional medications, but about a third of patients do not benefit from any of the available treatments. In some cases, the seizures worsen when treated with standard drugs.

Dravet syndrome, which is caused by a genetic mutation and begins in infancy, is one such form of severe epilepsy. It can result in as many as 40 seizures an hour, and is associated with serious developmental delays and a high mortality rate.

Professor Lars Ittner and his team have been studying the causes of neurological diseases for many years, including extensive investigations into the role played by the build-up of tau proteins.

One of their recent studies found hyperexcitation of the neurons caused by tau protein build-up is a key driver of the progression of Alzheimer’s disease.

Hyperexcited neurons fire continuously instead of only when stimulated, and can result in seizures, neural network dysfunction, and cognitive decline.