STXBP1-Related Developmental and Epileptic Encephalopathy

Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.

Detalles Bibliográficos
Autores principales: Wild, Brittani, Nelson, Stephen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2019
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942547/
https://www.ncbi.nlm.nih.gov/pubmed/31929717
http://dx.doi.org/10.15844/pedneurbriefs-33-6
Descripción
Sumario:Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.

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