Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

OBJECTIVE: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD). METHODS: Patients with STXBP1 mutations were identified in various ways: as part of a retrospective cohort study o...

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Detalles Bibliográficos
Autores principales: Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Hawkins, Cynthia, Shlien, Adam, Marshall, Christian R., Turner, Lesley A., Minassian, Berge A., Scherer, Stephen W., Boelman, Cyrus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305/
https://www.ncbi.nlm.nih.gov/pubmed/29264391
http://dx.doi.org/10.1212/NXG.0000000000000199

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