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Article

[Clinical and genetic characteristics of children with STXBP1 encephalopathy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2020

Cao J J, Ji X N, Mao Y Y, Zhang P P, Liu W T, Zhang H Z, Ding N, Chen Q

Abstract excerpt

Objective: To investigate the clinical and genetic characteristics of developmental and epileptic encephalopathy (DEE) caused by syntaxin-binding protein 1 (STXBP1) gene mutation. Methods: The clinical data, gene variation and treatment outcome of 15 children with STXBP1 encephalopathy admitted to Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2014 to June 2019 were analyzed...

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Identifiers

PMID: 32521962
DOI: 10.3760/cma.j.cn112140-20191028-00683

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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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