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Gene · 6529

Papers1,693

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

TitleJournalYearPMIDFound bySource
Glycerol Phenylbutyrate Treatment in a Pediatric Cohort of SLC6A1-Related Neurodevelopmental Disorder.Pediatr Neurol202642767125PubTator, text miningPubMed
Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies.Expert Rev Neurother202642762175PubTator, text miningPubMed
Drug repurposing of glycerol phenylbutyrate for children with SLC6A1-related neurodevelopmental disorder: A prospective open-label case series.Mol Genet Metab202642735473PubTator, text miningPubMed
Phenylbutyrate-Responsive SLC6A1-Related Neurodevelopmental Disorder Associated With a Familial Variant.J Child Neurol202642731082PubTator, text miningPubMed
4-Phenylbutyrate Plus Wildtype GAT-1 Augmentation: A Dual Therapy to Rescue SLC6A1 Variant-Associated Developmental and Epileptic Encephalopathy.Genes (Basel)202642650175PubTator, text miningPubMed
Multi-glial inhibitory plasticity in epilepsy and sleep: implications for post-traumatic epileptogenesis.Exp Neurol202642617910PubTator, text miningPubMed
Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi-Stage Computational Analysis.J Comput Chem202642530159PubTator, text miningPubMed
SCAP-derived exosomes restore excitatory-inhibitory balance and attenuate glutamate-induced excitotoxicity via modulation of GABAergic signaling.Neuroscience202642520916PubTator, text miningPubMed
In Silico Selection of GAT-1 Inhibitors.Pharmaceuticals (Basel)202642515695PubTator, text miningPubMed
Environmental and treatment-related factors associated with developmental outcomes in genetic epilepsies.Epilepsia202642470662PubTator, text miningPubMed
Parent-Reported Improvement in Seizure Control and Development After Phenylbutyrate Treatment in Children With STXBP1 and SLC6A1.Pediatr Neurol202642447769PubTator, text miningPubMed
Monogenic epilepsies exhibit distinct sleep endophenotypes.medRxiv202642428076PubTator, text miningPubMed
4 Phenylbutyrate Plus Gene augmentation: A Dual Therapy To Rescue of SLC6A1 Variant Associated Developmental And Epileptic Encephalopathy.bioRxiv202642327277PubTator, text miningPubMed
Novel Variants in PLPBP, SCN1A, and SLC6A1: Genetics, Bioinformatics, and clinical Elucidation of Three Distinct Cases of Developmental and Epileptic Encephalopathy.J Neurogenet202642307184PubTator, text miningPubMed
Resolving three GABA induced electrogenic events and GABA-coupling stoichiometry for Na+ and Cl- in hGAT-1.FEBS J202642261962PubTator, text miningPubMed
SLC6A1-Related Neurodevelopmental Disorder: A Scoping Review of Clinical Features and Emerging Therapeutic Strategies.Pediatr Neurol202642173049PubTator, text miningPubMed
Secretory Lysosome-Related Gene Signature Defines the Immune Microenvironment and Identifies RGS2 as a Prometastatic Factor in Hepatocellular Carcinoma.Hum Mutat202642147807PubTator, text miningPubMed
SHANK3-anchored reverse phenotyping identifies a rare-variant-enriched cognitive-motor subgroup of autism.medRxiv202642145640PubTator, text miningPubMed
Discovery of the First Brain-Penetrant Radioligands for Visualizing the GABA Transporter 1 (GAT-1): Synthesis, In Vitro Screening, and In Vivo Evaluation in Nonhuman Primates.J Med Chem202641945380PubTator, 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

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.

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