Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review

RATIONALE: The case report aims to discuss the clinical symptoms and treatment of encephalopathy caused by a novel syntaxin- binding protein 1 (STXBP1) genetic mutation. PATIENT CONCERNS: The patient, a girl, was born at 38+4 weeks of gestation. She had frequent spasm attacks accompanied by obvious...

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Detalles Bibliográficos
Autores principales: Liu, Shunli, Wang, Liyuan, Cai, Xiao Tang, Zhou, Hui, Yu, Dan, Wang, Zhiling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392729/
https://www.ncbi.nlm.nih.gov/pubmed/29718889
http://dx.doi.org/10.1097/MD.0000000000010663

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392729/
https://www.ncbi.nlm.nih.gov/pubmed/29718889
http://dx.doi.org/10.1097/MD.0000000000010663

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