Article
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Neurology - 19 Jul 2022
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, Leffler 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
Abstract excerpt
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 (in)dependence. METHODS: In this observational study, patients with a minimum age of 18 years carrying a (likely)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.