Ask about this productRelated genes to: Kcnq2 antibody
- Gene:
- KCNQ2 NIH gene
- Name:
- potassium voltage-gated channel subfamily Q member 2
- Previous symbol:
- EBN, EBN1
- Synonyms:
- Kv7.2, ENB1, BFNC, KCNA11, HNSPC
- Chromosome:
- 20q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1998-01-12
- Date modifiied:
- 2016-02-04
Related products to: Kcnq2 antibody
Related articles to: Kcnq2 antibody
- To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes. - Source: PubMed
Publication date: 2026/05/04
Jadhav TruptiBouffler Sophie EInnes EmilyFahey MichaelHunter MatthewKothur KavithaLunke SebastianLynch MatthewMacdonald-Laurs EmmaPalmer Elizabeth EmmaPatel ChiragPinner JasonRiney KateSachdev RaniSandaradura Sarah AScheffer Ingrid EStark ZornitzaHowell Katherine B - Synchronous calcium (Ca) bursting is a hallmark of neuronal network maturation. While microelectrode array (MEA) recordings are routinely used to generate population-averaged measurements on this functional network activity, live cell Ca-imaging offers single-cell resolved, contextual data. Unfortunately, most electrophysiologically active cells are hypersensitive to medium exchange, which is standard practice in most sensor dye-based Ca-imaging protocols. Here, we found that the use of conditioned imaging medium preserves spontaneous network activity of iPSC-derived glutamatergic and motor neuron cultures. The effect was consistent across different cell lines and seeding densities and allowed for the faithful detection of disease-specific phenotypes, as shown using a -related epilepsy model. Our findings thus provide a simple, robust strategy to measure spontaneous network activity in Ca-imaging experiments, broadening the utility of this technique for functional phenotyping, disease modeling, and drug screening with cellular resolution. - Source: PubMed
Publication date: 2026/04/09
Dirkx NinaAsselbergh BobVerstraelen PeterVan Lent JonasDe Vriendt ElsTimmerman VincentDe Vos Winnok HWeckhuysen Sarah - Colorectal cancer (CRC) remains a leading cause of cancer mortality, yet no systematic effort has linked druggable CRC driver genes to downstream ion channel effectors. We integrated differential expression analysis, weighted gene co-expression network analysis (WGCNA), and protein-protein interaction (PPI) network pharmacology to identify CRC hub genes and their ion channel connections, validated by dual single-cell perturbation approaches: variational graph autoencoder-based virtual knockout (VGAE-KO) and experimental HCT116 CRISPRi Perturb-seq (6 genes, 8445 cells). WGCNA identified 100 hub genes spanning three functional programs. Ribosomal proteins link to K channels ( → , targetable by EMA-approved ataluren, passed dual validation at 97.8th-98.7th percentile). RNA processing genes connect to Cl channels ( → , strongest signal at 99.8th-99.4th percentile). Immune checkpoint receptors (, ) connect via PPI intermediates to Ca2+ and K channels, targetable by relatlimab (FDA-approved) and varlilumab (Phase 2). This work maps previously unknown links between CRC driver genes and ion channel regulation, with the ataluren-- axis ready for pharmacological testing. - Source: PubMed
Publication date: 2026/04/10
Dong ZhongyuanMeng XuanlinWang Lianghua - Pathogenic variants in KCNQ2 and KCNQ3 are established causes of self-limited neonatal epilepsy (SeLNE). While over 300 KCNQ2 variants have been reported, the number of KCNQ3 variants is increasing, with an expanding phenotypic spectrum including Developmental and Epileptic Encephalopathy (DEE), Intellectual Disability (ID), and Autism Spectrum Disorder (ASD). In a single case study, we report the clinical, neuropsychological, and molecular characterization of a novel KCNQ3 variant to refine genotype-phenotype correlations. - Source: PubMed
Publication date: 2026/04/17
Mangano Giuseppe DonatoDi Pasquale GabrieleComisi Francesco FabrizioAngileri Vita MariaAntona VincenzoDuca VincenzoSalpietro VincenzoMangano Giuseppa Renata - This systematic review aimed to summarize recent progress in precision medicine for all studied potassium gene variants related to epilepsy. It analyzed studies conducted in cell and animal models and in humans. - Source: PubMed
Publication date: 2026/04/16
Xie ChangningYin FeiKessi MiriamPeng Jing