ArticleInternational journal of molecular sciences2023
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.
Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 19 citations in OpenAlex.
- GWAS of Tau-Neurodegeneration Mismatch Identifies New Risk Loci for Susceptibility to Tau.CNS neuroscience & therapeutics · 2026Article
- Whole-genome resequencing identifies adaptive variation associated with complex terrain in southwestern Chinese ducks.Poultry science · 2026Article
- The origin patterns, admixture, and selection signatures of the global gamecock populations.Poultry science · 2025Article
- STXBP6 regulates growth, metastasis and lipid metabolism of ovarian cancer cells via the PI3K/AKT signaling pathway.Medical oncology (Northwood, London, England) · 2025Article
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- Integrating plasma circulating protein-centered multi-omics to identify potential therapeutic targets for Parkinsonian cognitive disorders.Journal of translational medicine · 2025Article
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Non-Invasive Assessment of Neurogenesis Dysfunction in Fetuses with Early-Onset Growth Restriction Using Fetal Neuronal Exosomes Isolating from Maternal Blood: A Pilot Study.International journal of molecular sciences · 2025Article
- Review
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Vesicles: New Advances in the Treatment of Neurodegenerative Diseases.International journal of molecular sciences · 2024Review
- The syntaxin-binding protein STXBP5 regulates progerin expression.Scientific reports · 2024Article
- A functional variant rs912304 for late-onset T1D risk contributes to islet dysfunction by regulating proinflammatory cytokine-responsive gene STXBP6 expression.BMC medicine · 2024Article
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- Bioinformatic Evaluation ofGenes · 2024Article
- Implications of aCurrent issues in molecular biology · 2024Article
- A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children.NPJ science of learning · 2024Article
- Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking. Mutations in genes encoding SNARE proteins are often associated with a broad spectrum of neurological conditions defined as "SNAREopathies", including epilepsy, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorders. The present whole exome sequencing (WES) study describes, for the first time, the occurrence of developmental epileptic encephalopathy and autism spectrum disorders as a result of a de novo deletion within the
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