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STXBP1: syntaxin binding protein 1
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Gene · 6812

Papers1,814

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

21 to 40 of 1,814

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TitleJournalYearPMIDFound bySource
Defining therapeutic thresholds for STXBP1 gene therapy: From gene delivery to network rescue in neurodevelopmental disorders.Mol Ther202642330946PubTator, text miningPubMed
Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A.Hum Mutat202642311236PubTator, text miningPubMed
STXBP1 inhibits glioma progression by modulating ferroptosis and epithelial-mesenchymal transition.Arch Med Sci202642305346PubTator, text miningPubMed
Phenotypic and genotypic characteristics of children STXBP1-related disorders.Seizure202642247924PubTator, text miningPubMed
Human brain slice culture model of STXBP1 encephalopathy reveals disruption of neuronal network activity and changes in gene expression.Exp Neurol202642214744PubTator, text miningPubMed
Guiding AlphaFold to predict how Munc13-1 opens Syntaxin-1.FEBS Open Bio202642208546PubTator, text miningPubMed
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.Neurology202642190144PubTator, text miningPubMed
Identifying Novel Biomarkers and Therapeutic Targets for Endometriosis: Integrative Analysis of the Plasma Proteome and Genome.Mediators Inflamm202642175707PubTator, text miningPubMed
Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders.Dev Med Child Neurol202642168833PubTator, text miningPubMed
Erratum: Kim et al., "GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy".J Neurosci202642161609PubTator, text miningPubMed
Changing the Child: The Impact of Novel Treatments on the Identity of Children With Monogenic Neurodevelopmental Disorders.Bioethics202642139566PubTator, text miningPubMed
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.medRxiv202642006794PubTator, text miningPubMed
Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders.Dev Med Child Neurol202641964267PubTator, text miningPubMed
From QI-disability to QID-12: creating a brief proxy-report measure of quality of life for children with intellectual disability.Qual Life Res202641920472PubTator, text miningPubMed
Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches.Neurol Sci202641912906PubTator, text miningPubMed
STXBP1 Encephalopathy: Cannabidiol as a Treatment Option and Expansion of the Genotype-Phenotype Spectrum - Case Reports.Mol Syndromol202641909762PubTator, text miningPubMed
Identification of a therapeutic threshold for AAV-STXBP1 gene therapy in a rodent model of STXBP1 developmental and epileptic encephalopathy.Mol Ther202641883162PubTator, text miningPubMed
Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.Neurology202641818656PubTator, text miningPubMed
Clinical Features, Mechanisms, and Management of Anxiety in Youth with Tic Disorders: A Narrative Review.Neuropsychiatr Dis Treat202641798289PubTator, text miningPubMed
Analysis of treatment outcome variations in infantile epileptic spasms syndrome.Front Neurol202641783846PubTator, text miningPubMed

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  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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