Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

BACKGROUND AND OBJECTIVES: 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...

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Detalles Bibliográficos
Autores principales: Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M., Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A., Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S., Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H., Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E., Striano, Pasquale, Møller, Rikke S., Gardella, Elena, Weckhuysen, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302932/
https://www.ncbi.nlm.nih.gov/pubmed/35851549
http://dx.doi.org/10.1212/WNL.0000000000200715

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