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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

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