Functional and genomic analyses of novel epilepsy mutations

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Genetics has long been recognised to play an important role in many types of epilepsy. However, it is only in the last few years that substantial progress has been made in identifying the actual genetic variations that cause epilepsy. Although this is a major recent breakthrough, understanding how these genetic variations contribute to epilepsy and translating this into new treatments will require extensive further work. This multi-disciplinary project will begin to address these issues by focusing on the STXBP1 gene, which a major international scientific consortium has recently reported to be the second most commonly mutated gene in catastrophic infantile epilepsies. The principal aims of our research are to test how mutations in STXBP1 change the function of individual cells and the behaviour of animals that carry those mutations and to search for genetic pathways that can help to restore normal function and behaviour. This project will reveal how genetic variations in STXBP1 cause changes in the brain that lead to epilepsy. It may also suggest new therapeutic approaches for the treatment of catastrophic infantile epilepsies and perhaps more common forms of epilepsy.