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AES 2022 | Advances in genetic diagnosis and precision medicine for epilepsy

Sattar Khoshkhoo, MD, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, discusses the rapid progress seen in the field of genetic discovery for epilepsy. The past decade has been the Golden Age of Gene Discovery, where epilepsy genes have been identified rapidly. As a result, genetic diagnosis has become a standard part of pediatric epileptic care. However, this practice is not as widely implemented in adult epilepsy care yet. The genetic diagnosis in children has allowed the emergence of targeted therapeutics and precision medicine tailored to the specific cause of epilepsy in individuals. Promising clinical trials, such as those for Dravet syndrome and SCN1A variants, are already underway. Dr. Khoshkhoo expresses his excitement for the future as more genes and variants are discovered, believing that speeding up genetic diagnosis in adults will enable their participation in these trials, thus making it a standard part of their epilepsy care. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

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