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Gene · 6792

Papers1,482

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
A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome.Mol Genet Genomic Med202642802491PubTator, text miningPubMed
[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 Zhi202642742013PubTator, text miningPubMed
TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.Hum Mutat202642707628PubTator, text miningPubMed
Associations between EEG measures and clinical severity in CDKL5 deficiency disorder.Clin Neurophysiol202642632229PubTator, text miningPubMed
CRISPR/Cas9-Engineered HEK293T Cellular Model Harboring the Pathogenic CDKL5 c.172A>T Variant Recapitulates Core Molecular Phenotypes of CDKL5 Deficiency Disorder.Iran J Pharm Res202642488191PubTator, text miningPubMed
Cyclin-dependent kinases as signaling integrators in cancer: Structural evolution, functional plasticity, and drug discovery.Biochim Biophys Acta Mol Basis Dis202642435947PubTator, text miningPubMed
Clinical electrophysiological characteristics of cyclin-dependent kinase-like 5 gene induced developmental and epileptic encephalopathy (CDKL5-DEE).Epileptic Disord202642412596PubTator, text miningPubMed
Immune and clinicopathological features of molecularly defined prolactinoma subtypes.J Neurosurg202642361377PubTator, text miningPubMed
Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder.Biomedicines202642193287PubTator, text miningPubMed
From Sea to Therapy: Development and Analytical Control of Recombinant Human CDKL5 Production in the Marine Bacterium Pseudoalteromonas haloplanktis TAC125.Mar Drugs202642188286PubTator, text miningPubMed
Cannabidiol Use in Developmental and Epileptic Encephalopathies: A Syndrome- and Age-Stratified Systematic Review and Meta-analysis.CNS Drugs202642185726PubTator, text miningPubMed
Ganaxolone, an approved therapy for CDKL5-deficiency disorder, is an inhibitor of PTP1B.J Biol Chem202642167577PubTator, text miningPubMed
Base editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder.Sci Rep202641963441PubTator, text miningPubMed
Efficacy and Safety of Zonisamide Addition in Children With Developmental Epileptic Encephalopathy/Epileptic Encephalopathy: A Real-World Study.CNS Neurosci Ther202641934115PubTator, 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
Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicine.Epilepsia202641885712PubTator, text miningPubMed
The CDKL5 kinase undergoes liquid-liquid phase separation driven by a serine-rich C-terminal region.Life Sci Alliance202641807047PubTator, text miningPubMed
Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.Epilepsia Open202641804683PubTator, text miningPubMed
Analysis of treatment outcome variations in infantile epileptic spasms syndrome.Front Neurol202641783846PubTator, 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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