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AES 2023 | How to use current anti-seizure medications in a targeted way for genetic epilepsies

Kristen Park, MD, Children’s Hospital Colorado & University of Colorado School of Medicine, Aurora, CO, shares an overview of her talk from the American Epilepsy Society (AES) 2023 meeting, which discussed how to use current antiseizure medications (ASMs) in a more precise way for optimal management of genetic epilepsies. There has been exponential growth in the number of ASMs available in recent years, necessitating an understanding of how to select the best agent for a given patient based on the principles of precision medicine. Pharmacogenomic studies have helped to tailor medication choices based on an individual’s genetic makeup, thereby maximizing seizure control and minimizing side effects. For example, children with KCNQ2 developmental and epileptic encephalopathy would be best treated with potassium channel blockers as the gene in question codes for a potassium channel protein. Some evidence suggests sodium channel medications are also effective, given their colocalization with potassium channels on the axon initial segment. Similarly, vigabatrin is recommended for individuals with tuberous sclerosis complex (TSC) based on its ability to increase GABA levels and inhibit mTOR pathway activation. Accumulating evidence also suggests there is potential to extend vigabatrin use to preventive therapy in TSC infants, but more data is needed. This interview took place during the American Epilepsy Society (AES) 2023 Annual Meeting congress in Orlando, FL.

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