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Phenotypic assessment of Stxbp1 haploinsufficiency reveals neurological disabilities in serotoninergic system.

Human molecular genetics - 8 Feb 2026

Xu Gangting, Lu Jiao, Ye Piao, Xu Yiran, Xu Yi, Li Saixuan, Wang Yuejun, Li Shuang, Zhu Cuiqing, Xu Yuxia, Sun Bing, Wang Dandan

Abstract excerpt

STXBP1 (Syntaxin-binding protein 1) is a presynaptic SNARE complex regulator essential for neurotransmitter release. De novo heterozygous mutations in Stxbp1 represent one of the most common genetic causes of early onset epileptic encephalopathies (STXBP1 related disorders, STXBP1-RD). STXBP1 protein is ubiquitously expressed across all neuronal populations. While impaired synaptic E/I balance is established,...

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Identifiers

PMID: 41263692
DOI: 10.1093/hmg/ddaf161

Genes

STXBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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