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

Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Claudia, M Bonardi; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Bernardo Dalla Bernardina,; Colin, A Ellis; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Karl Martin Klein,; Korff, Christian; Krijtova, Hana; Leffner, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; Sarah McKeown Ruggiero,; Mochel, Fanny; Ramond, Francis; Philipp, S Reif; Richard-Mornas, Aurélie; Rosenow, Felix; Schropp, Christian; Rhys, H Thomas; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Ingrid, E Scheffer; Striano, Pasquale; Rikke, S Møller; Gardella, Elena; Weckhuysen, Sarah

doi:10.1212/WNL.0000000000200715

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 , David Crosiers , Ganna Balagura , Claudia M Bonardi , Anna Basu , Gaetano Cantalupo , Valentina Chiesa , Jakob Christensen , Bernardo Dalla Bernardina , Colin A Ellis , Francesca Furia , Fiona Gardiner , Camille Giron , Renzo Guerrini , Karl Martin Klein , Christian Korff , Hana Krijtova , Melanie Leffner , Holger Lerche , Gaetan Lesca , David Lewis-Smith , Carla Marini , Dragan Marjanovic , Laure Mazzola , Sarah McKeown Ruggiero , Fanny Mochel , Francis Ramond , Philipp S Reif , Aurélie Richard-Mornas , Felix Rosenow , Christian Schropp , Rhys H Thomas , Aglaia Vignoli , Yvonne Weber , Elizabeth Palmer , Ingo Helbig , Ingrid E Scheffer , Pasquale Striano , Rikke S Møller , Elena Gardella , Sarah Weckhuysen. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - (2022), pp. 221-233. [10.1212/WNL.0000000000200715]