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Article

Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.

Medicine - 16 Jan 2026

Qi Lina, Fang Chengchao, Hu Zhonghua

Abstract excerpt

To systematically summarize the clinical phenotypes, treatment responses, prognosis, and genetic characteristics of STXBP1-encephalopathy in Chinese pediatric patients, and to explore the clinical value of genetic testing in this disease. We retrospectively analyzed the clinical data, gene variant information, and treatment outcomes of 19 children with STXBP1-encephalopathy admitted to the Department of...

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Identifiers

PMID: 41560101
DOI: 10.1097/MD.0000000000047269
PMCID: PMC12826321

Genes

STXBP1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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