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.
1 to 20 of 1,814
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay. | Epilepsia | 2026 | 42811883 | PubTator, text mining | PubMed |
| Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1. | J Clin Invest | 2026 | 42752354 | PubTator, text mining | PubMed |
| [Effectiveness and tolerability of ketogenic diet therapy in children with genetic developmental and epileptic encephalopathy onset within 2 years of age]. | Zhonghua Er Ke Za Zhi | 2026 | 42742013 | PubTator, text mining | PubMed |
| Genomic Sequencing in Neonatal Encephalopathy and Suspected Hypoxic-Ischaemic Encephalopathy: A Systematic Review. | Genes (Basel) | 2026 | 42650055 | PubTator, text mining | PubMed |
| Tumor suppressor syntaxin binding protein 1 regulates alternative splicing of DNA repair genes related to radiation sensitivity in breast cancer cells. | Oncol Lett | 2026 | 42631023 | PubTator, text mining | PubMed |
| STXBP1 Variants Associated With Epilepsy With Variable Severity. | CNS Neurosci Ther | 2026 | 42609058 | PubTator, text mining | PubMed |
| Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies. | Brain Dev | 2026 | 42607558 | PubTator, text mining | PubMed |
| Diagnostic delay in infants with very early-onset rare and ultra-rare genetic epilepsies. | Dev Med Child Neurol | 2026 | 42573089 | PubTator, text mining | PubMed |
| Functional differences of Munc18 isoforms reflect their affinities for the exocytosis site. | Cell Mol Life Sci | 2026 | 42570027 | PubTator, text mining | PubMed |
| Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy. | Neurol Genet | 2026 | 42559425 | PubTator, text mining | PubMed |
| Syndromic dilated cardiomyopathy suggestive of an oligogenic background with CD36 and TNXB variants: a case report. | Eur Heart J Case Rep | 2026 | 42559185 | PubTator, text mining | PubMed |
| Brain structure abnormalities in neurodevelopmental synaptopathies. | Neuroimage Clin | 2026 | 42485845 | PubTator, text mining | PubMed |
| Structural characterization of intermediates in Sec1/Munc18 protein-catalyzed SNARE assembly. | J Biol Chem | 2026 | 42480707 | PubTator, text mining | PubMed |
| From synaptic dysfunction to targeted intervention: a comprehensive review of STXBP1 encephalopathy and precision therapeutic strategies. | Epilepsy Behav | 2026 | 42462387 | PubTator, text mining | PubMed |
| Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder. | Mol Psychiatry | 2026 | 42448791 | PubTator, text mining | PubMed |
| Parent-Reported Improvement in Seizure Control and Development After Phenylbutyrate Treatment in Children With STXBP1 and SLC6A1. | Pediatr Neurol | 2026 | 42447769 | PubTator, text mining | PubMed |
| Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval. | Clin Genet | 2026 | 42432431 | PubTator, text mining | PubMed |
| Monogenic epilepsies exhibit distinct sleep endophenotypes. | medRxiv | 2026 | 42428076 | PubTator, text mining | PubMed |
| SNAREopathy in Neurologic Disorders: From Synaptic Mechanisms to Genetic and Epigenetic Regulation. | Neuroscientist | 2026 | 42403099 | PubTator, text mining | PubMed |
| Munc18-1 is crucial for photoreceptor function, survival and regulation of syntaxin-3 localization and expression. | Sci Rep | 2026 | 42401592 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- 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.
For software
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