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]

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.
221
233
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
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1280421
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 3
social impact