Mutations in the SCN1A gene, which codes for an important ion channel in the brain (the voltage-gated sodium channel), are an important cause of epilepsy. These mutations can cause a range of disorders, ranging from fairly treatable epilepsies to syndromes with severe and disabling seizures, such as Dravet syndrome. 

At least some of the variability in how different patients are affected by mutations in this gene might be caused by different effects of the mutations at the molecular level. Some mutations may make the channels open abnormally often, whilst others may make them not work at all. 

In this research stream, we combine recording what goes on in individual channels under different conditions, with computer models of neurons. We are also developing novel patient-specific animal models of individual mutations. This work may improve our ability to predict the effect of mutations for individual patients in the future.