Ask about this productRelated genes to: KCNQ2 Blocking Peptide
- 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 Blocking Peptide
Related articles to: KCNQ2 Blocking Peptide
- Genetic etiologies underlie a substantial proportion of pediatric dystonia, but whether treatment response to combined dopaminergic and anticholinergic therapy varies by genotype remains unknown. - Source: PubMed
Publication date: 2026/05/12
Zhou XiaolinLi YuLuo XiangyangHe ZhanwenLiu MujinLi Pinggan - Biological systems execute discrete, often irreversible actions - from DNA replication and cell-state transitions to Venus flytrap closure, vertebrate sex change, and human symbolic behavior - not as graded responses to single variables but as threshold-governed events emerging from the convergence of multiple necessary conditions. Here we formalize this convergence logic as the ARCH × Φ framework: a multiplicative threshold function in which Archetype (A, the conserved structural substrate), Drive (D, the energetic or hormonal activation), Context (C, the releasing stimulus or social cue), and Gating Field (Φ, a sterol-modulated permissiveness variable) must jointly exceed a system-specific commitment threshold θ. The multiplicative structure enforces a zero-term veto: suppression of any single component collapses execution regardless of the state of the other three. We trace the physical origin of Φ to the incorporation of sterols into eukaryotic membranes approximately 2.4 billion years ago, at the Great Oxidation Event, when oxygen-dependent sterol biosynthesis first separated stored electrochemical drive from discharge permissiveness - two quantities physically coupled in all pre-sterol membrane systems and independently tunable only with the arrival of the cholesterol ring structure. We propose that Φ is instantiated across three cholesterol-derived tiers: rapid modulation through accessible cholesterol pools and their oxysterol derivatives, intermediate modulation through neurosteroids synthesized via mitochondrial pathways, and lifetime-scale modulation through structural cholesterol deployment in myelin and perineuronal nets - all expressions of a single biophysical mechanism. We extend this account to two additional isoprenoid-based Φ systems: non-photochemical quenching (NPQ) in plant chloroplasts, where zeaxanthin and the PsbS protein constitute a zero-term veto gate for light-energy dissipation that is characterized to picosecond resolution, and insect holometabolous metamorphosis, where juvenile hormone functions as a Φ-suppressor and the dietary sterol auxotrophy of insects produces an environmentally gated Φ architecture distinct from the endogenous sterol synthesis of vertebrates. Monogenic Φ-lock disorders - exemplified by Niemann-Pick type C disease, in which disrupted intracellular cholesterol trafficking abolishes KCNQ2/3-dependent inhibitory gating - provide pathological proof-of-concept for the Φ-lock failure mode at the molecular level. The framework is formally equivalent to the h inactivation variable derived independently by Hodgkin and Huxley from squid axon voltage-clamp data in 1952, implying that Φ is not solely a theoretical construct but a measurable property of excitable membranes with a 2.4-billion-year evolutionary history. Explicit, falsifiable predictions are derived regarding perturbation-matrix experiments, CYP46A1 polymorphism effects on behavioral thresholds, the correlation of sterol enzyme diversity with behavioral plasticity rather than execution speed across taxa, dietary sterol auxotrophy and insect developmental plasticity, and τΦ acceleration as a route to increased biological output yield. - Source: PubMed
Publication date: 2026/05/08
Rahman TahirZorumski Charles F - Although structural heart abnormalities are not typically associated with short QT syndrome (SQTS)-related sudden unexpected death, few autopsy studies have examined the underlying pathology and genetic factors of SQTS. Therefore, comprehensive pathologic examinations and whole-exome sequencing were conducted in four men (aged 24, 28, 31, and 45 years) with sudden unexpected death and a short QT interval (sQT). No variants were identified in genes currently known to be associated with SQTS. An enrichment analysis was performed to identify potential genetic causes and mechanisms. None of the men had a history of cardiovascular disease, familial sudden death, or arrhythmia. Rare variants in SCN10A, ANK2, KCNQ2, and CACNA1H were detected, potentially associated with cardiac electrophysiology. One case exhibited apical hypertrophic cardiomyopathy with a rare PLEC variant. The other three displayed left ventricular hypertrabeculation with poor compaction, deep recess formation, myocardial fibrosis, micronecrosis, and minimal inflammatory cell infiltration. The enrichment analysis indicated that these variants were associated with cardiac electrophysiology and morphogenesis. These results showed that individuals with sQT may be at risk of sudden death even without a clinical or family history. This risk may be increased by cardiomyopathy-related gene variants in preclinical or early disease stages. Electrocardiographic evaluation to identify sQT cases followed by morphologic and genetic evaluations improves the assessment of a sudden death risk in individuals with sQT. - Source: PubMed
Publication date: 2026/05/04
Hata YukikoYamaguchi YoshiakiHirono KeiichiIchimata ShojiroMizumaki KoichiNishida Naoki - 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