Precision medicine and Epilepsy Genetics
Rikke Steensbjerre Møller (Danish Epilepsy Centre, Dianalund)
Professor Rikke Steensbjerre Møller’s main research areas of interest are: gene discovery in neurodevelopmental disorders and epilepsy; electro-clinical characterization of genetic epilepsies; functional characterization of genetic variants to understand their pathomechanisms; genotype-phenotype-pharmacoresponse correlation studies; improvement of existing or develop new personalized therapies for genetic epilepsies
About the webinar
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.
Learning objectives
- To gain awareness and understanding of genetic causes of epilepsy.
- To be able to decide which test should be performed in which syndrome
- To consider precision medicine implications of genetic test results.
