Finding a cure for a devastating form of epilepsy

Summary Epilepsy is a devastating disease with no cure for most. We have engineered a genetic mouse model based on a human mutation to better understand the disease and develop new therapeutic strategies.

Project Details

Epileptic encephalopathy is a severe disease that is characterised by intractable seizures and neurodevelopmental delays. The genetic revolution has begun to unravel the molecular basis of disease with a number of genes now implicated in causing the disease. This includes mutations in a brain ion channel called HCN1. The following quote highlights the issues faced by families with this disease. ‘Alli watched alarmed as her 3 month old baby daughter frothed at the mouth, stiffened, convulsed and struggled to breathe before being airlifted to hospital’. There are no adequate treatment options available. To help overcome this we have engineered a mouse model that has the human mutation based on this child that lives in Australia. In this project the student will help characterise the mouse model to test if it has epilepsy and/or developmental delays. The project will extend to determining the cellular basis of disease using state of the art electrophysiological techniques. And based on knowledge of the disease process, new therapeutic strategies will also be tested on the mouse model.