Investigation of genetic epilepsies has proven highly successful in recent years. A wide variety of genes causing human epilepsies have been discovered providing important diagnostic and counselling information for patients and their families.

 

We recently theorised that there may be a sizeable ‘hidden genetics’ of epilepsy due to somatic mutations that are difficult or impossible to detect by conventional analysis of peripheral blood samples. This idea is been supported by recent discovery of somatic mutations in the brain in specific malformation syndromes (where brain tissue was available for testing) and very recently by analysis of postmortem tissue in autism.

 

In this project, we are pushing the boundaries to establish routine techniques to detect genetic variation in the brain by minimally invasive methods. This would then be applicable to epilepsies and other brain disorders for gene discovery. Eventually these techniques could translate to precision medicine therapies at the clinic.