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Article

STXBP1 Variants Associated With Epilepsy With Variable Severity.

CNS neuroscience & therapeutics - 1 Aug 2026

Xu Meng, Guo Xuan, Wang Zhi-Kui, Qi Yang, Ye Ting-Ting, Xu Jie, Deng Wei-Wen, Zhuang Min-Zhi, Shi Yi-Wu, Xiong Fu, Liu Xiao-Rong

Abstract excerpt

INTRODUCTION: Pathogenic variants in STXBP1 are a well-established cause of developmental and epileptic encephalopathy (DEE), whereas their contribution to milder epilepsy phenotypes remains under-characterized. We sought to delineate STXBP1 variants across a clinical severity spectrum and to explore molecular correlates of phenotypic heterogeneity. METHODS: Trio-based whole-exome sequencing was performed in...

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Identifiers

PMID: 42609058
DOI: 10.1002/cns.71093
PMCID: PMC13482176

Genes

STXBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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