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Beltrán-Corbellini Á, Aledo-Serrano Á, Møller RS, Pérez-Palma E, García-Morales I, Toledano R, et al. Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. Front Neurol [Internet]. 2022 Feb 17 [cited 2026 June 15];13. Available from: https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.777115/full