Professor Sam Berkovic’s early work was in neuroimaging where he was a pioneer in applying new brain imaging methods such as MRI to epilepsy. This rapidly entered routine clinical use and remains so today. Later, he turned to genetics and together with Ingrid Scheffer and molecular genetic collaborators, they discovered the first epilepsy gene in 1995. Subsequently his group have been involved in the discovery of many epilepsy genes. This has changed the conceptualisation of the causes of epilepsy, is having a major impact on epilepsy research, and has directly translated to daily clinical diagnosis and counselling, as well as refining treatment.