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Gene · 6326

Papers4,098

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
Therapeutic drug monitoring of lacosamide as add-on treatment in a neonate with therapy-resistant epilepsy due to SCN2A mutation: a case report.J Med Case Rep202642316283PubTator, text miningPubMed
Compound Heterozygous Sickle Cell-Beta Thalassemia Presenting As Chronic Hemolytic Anemia With Microcytosis and Prominent Left Ventricular Trabeculation: A Case Report.Cureus202642291950PubTator, text miningPubMed
Comparative in silico analysis of hemoglobin subunits HBB, HbS (p.Glu7Val), and HBA: Sequence-structure insights into sickle cell anemia.Comput Biol Chem202642247988PubTator, text miningPubMed
Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A-Related Disorders.bioRxiv202642239050PubTator, text miningPubMed
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.Genet Med202642227234PubTator, text miningPubMed
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.Neurology202642190144PubTator, text miningPubMed
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?NPJ Genom Med202642185328PubTator, text miningPubMed
Long-term inactivation mediated by different FGF-A homologues on heterologously expressed NaV1.2 currents.J Gen Physiol202642171533PubTator, text miningPubMed
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.Neurol Genet202642158268PubTator, text miningPubMed
Genotype-dependent response to combined levodopa/benserazide and trihexyphenidyl in pediatric genetic dystonia.Brain Dev202642119286PubTator, text miningPubMed
Genotype mutations and phenotypes of 30 cases with epilepsy related to fever sensitivity in children.Front Neurol202642037703PubTator, text miningPubMed
Flecainide binding dynamics in voltage-gated sodium channels: A comparative isoform analysis of the state-dependent block.Br J Pharmacol202642026409PubTator, text miningPubMed
Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report.Int J Dev Neurosci202642023993PubTator, text miningPubMed
Self-limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review.Epileptic Disord202642017391PubTator, text miningPubMed
Modelling precise responses to anti-seizure medication using brain organoids carrying SCN2A-GoF and SCN2A-LoF mutations.Clin Transl Med202642011973PubTator, text miningPubMed
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.medRxiv202642006794PubTator, text miningPubMed
Loss of schizophrenia risk gene XPO7 disrupts neuronal excitability and network regularity via altered Na+ channel dynamics in human neurons.Mol Psychiatry202641986745PubTator, text miningPubMed
Genetic spectrum and risk factor analysis for drug-resistant of early-onset epilepsy.Transl Pediatr202641982969PubTator, text miningPubMed
Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.Int J Mol Sci202641977462PubTator, text miningPubMed
Association of SCN1A and SCN2A Gene Polymorphisms with Antiseizure Medication Responsiveness: A Case-Control Study from Eastern India.Ann Indian Acad Neurol202641964137PubTator, 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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