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.
61 to 80 of 1,482
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| A novel deletion-insertion variant of RS1 in X-linked retinoschisis. | Ophthalmic Genet | 2025 | 40571670 | PubTator, text mining | PubMed |
| Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder? | Epilepsia Open | 2025 | 40543048 | PubTator, text mining | PubMed |
| CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum. | Hum Mutat | 2025 | 40496977 | PubTator, text mining | PubMed |
| Exploring neurodevelopment in CDKL5 deficiency disorder: Current insights and future directions. | Epilepsy Behav | 2025 | 40414190 | PubTator, text mining | PubMed |
| A phylogenetic analysis of the CDKL protein family unravels its evolutionary history and supports the Drosophila model of CDKL5 deficiency disorder. | Front Cell Dev Biol | 2025 | 40371392 | PubTator, text mining | PubMed |
| Exploring potential key genes and disease mechanisms in early-onset genetic epilepsy via integrated bioinformatics analysis. | Neurobiol Dis | 2025 | 40180227 | PubTator, text mining | PubMed |
| Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes. | Adv Lab Med | 2025 | 40160392 | PubTator, text mining | PubMed |
| Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study. | Epilepsia | 2025 | 40126049 | PubTator, text mining | PubMed |
| De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. | Am J Hum Genet | 2025 | 40088891 | PubTator, text mining | PubMed |
| Genetic Epilepsies With Onset in Infancy and Toddlerhood: A Prospective Single-Center Study in India. | Pediatr Neurol | 2025 | 40088508 | PubTator, text mining | PubMed |
| Beneficial Antioxidant Effects of Coenzyme Q10 in In Vitro and In Vivo Models of CDKL5 Deficiency Disorder. | Int J Mol Sci | 2025 | 40076840 | PubTator, text mining | PubMed |
| Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications. | Epileptic Disord | 2025 | 40072314 | PubTator, text mining | PubMed |
| Abstracts from the 13th International Conference for Healthcare and Medical Students (ICHAMS). | BMC Proc | 2025 | 40033387 | PubTator, text mining | PubMed |
| Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis. | J Mol Neurosci | 2025 | 39945963 | PubTator, text mining | PubMed |
| Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina. | Seizure | 2025 | 39933386 | PubTator, text mining | PubMed |
| Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report. | Medicine (Baltimore) | 2025 | 39928819 | PubTator, text mining | PubMed |
| The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations. | Brain Commun | 2025 | 39926610 | PubTator, text mining | PubMed |
| Unveiling Molecular Dynamics of MeCp2, CDKL5 and BDNF in the Hippocampus of Individuals With Intractable Mesial Temporal Lobe Epilepsy. | J Cell Mol Med | 2025 | 39888294 | PubTator, text mining | PubMed |
| The natural history of CDKL5 deficiency disorder into adulthood. | medRxiv | 2025 | 39867409 | PubTator, text mining | PubMed |
| The role of netrin G1-netrin-G-ligand-1 in schizophrenia. | Tzu Chi Med J | 2025 | 39850395 | 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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