Treatment of epilepsy remains largely empirical, and individual prescribing based on the mechanism of action is generally not possible. However, recent findings in genetic epilepsies have elucidated some mechanisms of epileptogenesis, unravelling the role of a number of genes with different functions, such as ion channels, proteins associated to the vesical synaptic cycle or involved in energy metabolism. The advent of Next Generation Sequencing is providing precision genetics enabling precision medicine in approximately one quarter of patients, which is illustrating the enormous utility of genetic testing for therapeutic decision-making.

Although any patient with refractory epilepsy may benefit from genetic screening, such testing will be of most importance in patients with early-onset seizures (less than 3 years of age), a family history of seizures, associated neurological deficit, or intellectual disability. A major goal of the genetic studies is the identification of novel drug targets and tailored therapies based on the cause of disease. The discovery of specific genetic mutations has also helped us to repurpose drugs with specific actions which may have been used in entirely unrelated conditions. The aim of this presentation is to provide an updated overview of the state-of-the art of precision medicine in those genetic epilepsies in which a precision medicine approach has been already implemented, or in which promising data are under evaluation.