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.
121 to 140 of 1,482
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| KRM-II-81 suppresses epileptifom activity across the neural network of cortical tissue from a patient with pharmacoresistant epilepsy. | Heliyon | 2024 | 38223703 | PubTator, text mining | PubMed |
| FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies | Neurology | 2024 | 38165374 | PubTator, text mining | PubMed |
| Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep. | Mol Genet Genomic Med | 2024 | 38087948 | PubTator, text mining | PubMed |
| Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy. | Epilepsia | 2024 | 38073125 | PubTator, text mining | PubMed |
| Neurosteroids as Novel Anticonvulsants for Refractory Status Epilepticus and Medical Countermeasures for Nerve Agents: A 15-Year Journey to Bring Ganaxolone from Bench to Clinic. | J Pharmacol Exp Ther | 2024 | 37977814 | PubTator, text mining | PubMed |
| Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission. | J Inherit Metab Dis | 2024 | 37932875 | PubTator, text mining | PubMed |
| CDKL5 regulates p62-mediated selective autophagy and confers protection against neurotropic viruses. | J Clin Invest | 2024 | 37917202 | PubTator, text mining | PubMed |
| Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy. | Epilepsia Open | 2024 | 37867425 | PubTator, text mining | PubMed |
| First report of Tunisian patients with CDKL5-related encephalopathy. | Epilepsia Open | 2024 | 37701975 | PubTator, text mining | PubMed |
| Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study. | Dev Med Child Neurol | 2024 | 37482918 | PubTator, text mining | PubMed |
| Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells. | Schizophr Res | 2024 | 35459617 | PubTator, text mining | PubMed |
Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants. | Front Neurol | 2023 | 38328757 | PubTator, text mining | PubMed |
| Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. | Front Genet | 2023 | 38250573 | PubTator, text mining | PubMed |
| Isochromosome Mosaic Turner Syndrome With Epilepsy and Developmental Abnormalities: A Case Report. | Cureus | 2023 | 38249224 | PubTator, text mining | PubMed |
| The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization. | Cardiol Res | 2023 | 38187509 | PubTator, text mining | PubMed |
| Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. | Front Neurol | 2023 | 38125836 | PubTator, text mining | PubMed |
| Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases. | Genome Med | 2023 | 38098057 | PubTator, text mining | PubMed |
| Profiling ubiquitin signalling with UBIMAX reveals DNA damage- and SCFβ-Trcp1-dependent ubiquitylation of the actin-organizing protein Dbn1. | Nat Commun | 2023 | 38097601 | PubTator, text mining | PubMed |
| Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. | Nat Commun | 2023 | 38081835 | PubTator, text mining | PubMed |
| Pllans-II: Unveiling the Action Mechanism of a Promising Chemotherapeutic Agent Targeting Cervical Cancer Cell Adhesion and Survival Pathways. | Cells | 2023 | 38067143 | 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
Read this list from software.
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GET https://conductscience.org/api/genes/v1/6792/papers?page=7