Finding a cure for a devastating form of epilepsy
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.
Aims
- Determine the cellular basis of this disease using state-of-the-art electrophysiological techniques.
- Test new therapeutic strategies on our engineered mouse model.
- Characterise a mouse model of HCN1 mutation to test if it has epilepsy and/or developmental delays.
Research team
Research group
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