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Article

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

Medicine - 1 May 2018

Liu Shunli, Wang Liyuan, Cai Xiao Tang, Zhou Hui, Yu Dan, Wang Zhiling

Abstract excerpt

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 psychomotor development retardation since the neonatal period. Genetic screening identified a novel STXBP1 genetic...

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Source

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Identifiers

PMID: 29718889
DOI: 10.1097/MD.0000000000010663
PMCID: PMC6392729

Genes

STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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