Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy

作者：C. E. Gjerulfsen, M. Oudin, F. Furia, S. Gverdtsiteli, C. J. Landmark, M. Trivisano, S. Balestrini, R. Guerrini, Á. Aledo-Serrano, R. Morcos, R. Previtali, Pierangelo Veggiotti, E. Ricci, G. Rubboli, E. Gardella, R. Møller · 发表于：Epilepsia · 年份：2025 · DOI：10.1111/epi.18257 · 被引用次数：24 · 研究领域：Medicine

Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult‐to‐treat and early‐onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A‐DEE caused by gain‐of‐function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom. In this retrospective study, the effect of cenobamate was assessed in patients with SCN8A‐DEE.