Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood / Hannah Stamberger, D.C.. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - (2022), pp. 221-233. [10.1212/WNL.0000000000200715]
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Renzo Guerrini;
2022
Abstract
Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence.
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