Recombinant Human Potassium voltage-gated channel subfamily KQT member 2 (KCNQ2), partial

1. An optimum cholesterol level in the plasma membrane is required for the proper functioning of Kv7.2/Kv7.3 channels. PMID: 29474891
2. Study describes the interactions of hposphatidylinositol-4,5-bisphosphate with both the open and closed states of a KCNQ2 channel. Through these methods, results show that a lipid can migrate between different binding sites in a protein and this migration modulates protein functions. PMID: 29058190
3. A distinctive ictal amplitude-integrated EEG pattern occurs in newborns with neonatal epilepsy associated with KCNQ2 mutations. PMID: 28926830
4. patients with the KCNQ2 E515D mutation are susceptible to seizures. PMID: 28038823
5. he present study involves identification of newer anti-epileptic agents by means of a computer-aided drug design adaptive protocol involving both structure-based virtual screening of Asinex library using homology model of KCNQ2 and 3D-QSAR based virtual screening with docking analysis, followed by dG bind and ligand efficiency calculations with ADMET studies, of which 20 hits qualified all the criterions. PMID: 28856943
6. This study provided evidence to suggests that the p.R213Q mutation has a dominant-negative effect on the current amplitude of homomeric wild-type and mutant KCNQ2 constructs, which correlates with clinical seizure frequencies and neurodevelopmental outcomes. PMID: 28399683
7. Mutations in STXBP1 encoding the syntaxin binding protein 1 can produce a phenotype similar to that of KCNQ2 mutations PMID: 29067685
8. whole exome sequencing in families with ID and history of autosomal dominant inheritance pattern with or without seizures, may further broaden the phenotypic spectrum of KCNQ2 associated epileptic encephalopathy or encephalopathy PMID: 28602030
9. The direct effect of heat on KCNQ2 channels may be involved in excitability regulation of neurons, and the P-loop region is critical for temperature-dependent modulation of the expression and trafficking of KCNQ2 channels. PMID: 28372301
10. Epileptic encephalopathy with burst suppression without brain malformations is associated with pathogenic variation in KCNQ2. PMID: 28133863
11. Heterozygous KCNQ2 R201C and R201H gain-of-function variants present with profound neonatal encephalopathy in the absence of neonatal seizures. PMID: 28139826
12. This study provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy. PMID: 27861786
13. In the present work, a pharmacophore-based 3D-QSAR model was generated for a series of N-pyridyl and pyrimidine benzamides possessing KCNQ2/Q3 opening activity. The pharmacophore model generated contains one hydrogen bond donor (D), one hydrophobic (H), and two aromatic rings (R). They are the crucial molecular write-up detailing predicted binding efficacy of high affinity and low affinity ligands for KCNQ2/Q3 opening a PMID: 27607834
14. This study demonstrated that Mutations in the KCNQ2 gene encoding the voltage-gated potassium channel subunit Kv7.2 cause early onset epileptic encephalopathy . PMID: 27030113
15. This work shows for the first time the association between KCNQ2 mutations and startle attacks in 38% of patients, which opens the possibility to define electroclinical phenotypes associated to KCNQ2 mutations. It also demonstrates that KCNQ2 mutations contribute to an important percentage of Spanish patients with epilepsy. PMID: 27535030
16. USP36 actions extend beyond TrkA because the presence of USP36 interferes with Nedd4-2-dependent Kv7.2/3 channel regulation. PMID: 27445338
17. a structural mechanism for the gating of the Kv7.3 PM and for the site of action of RTG as a Kv7.2/Kv7.3 K(+) current activator. PMID: 26627826
18. There is a variable clinical expression in infantile epilepsy patients with mosaicism for KCNQ2 mutations. PMID: 25959266
19. Our data indicate that the TW site is dispensable for function, contributes to the stabilization of the CaM-Kv7.2 complex and becomes essential when docking to either helix A or when helix B is perturbed. PMID: 26148514
20. all the patients carrying the p.A294V mutation of KCNQ2 presented the clinical and EEG characteristics of early onset epileptic encephalopathy PMID: 26007637
21. Kcnq2 protein and mRNA expression and DNA methylation status did not differ significantly between bipolar disorder patients and controls. PMID: 25041603
22. A novel and rare mutation was identified in KCNQ2 and was likely responsible for the benign seizures. PMID: 25046240
23. Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG. PMID: 25998125
24. The results of thus study suggested that the type of KCNQ2 mutation might influence Antiepileptic drug response epilepsy as well as developmental outcome. PMID: 25880994
25. Epileptic encephalopathy related to mutations in the KCNQ2 genes. PMID: 25818041
26. Collectively, this work reveals that residue C106 in S1 can be very close to several N-terminal S4 residues for stabilizing different KCNQ2 resting conformations. PMID: 25385787
27. the present results suggest that gain-of-function mutations in Kv7.2/3 currents may cause human epilepsy with a severe clinical course PMID: 25740509
28. The results of this study suggested that the loss of Kv7.2 activity increases the excitability of primary sensory neurons. PMID: 24687876
29. XRCC1 107 and 194, hOGG1, KCNQ2, and AT1R are not associated with endometriosis susceptibility. PMID: 22084859
30. The molecular events underlying the association between CaM and Kv7.2 and their regulation by Ca(2+), was examined. PMID: 24489773
31. This study demonistrated that KCNQ2 mutation association with epilepsy. PMID: 25052858
32. We described clinical, genetic, and functional data from 17 families with a diagnosis of benign familial neonatal epilepsy caused by KCNQ2 or KCNQ3 mutations and we showed that some mutations lead to a reduction of Q2 channel regulation by syntaxin-1A. PMID: 24375629
33. We monitored KCNQ2/3 channel currents and translocation of PHPLCdelta1 domains as real-time indicators of PI(4,5)P2, and translocation of PHOSH2x2, and PHOSH1 domains as indicators of plasma membrane and Golgi PI(4)P, respectively. PMID: 24843134
34. The development of severe epilepsy and cognitive decline in children carrying KCNQ2 mutations can be related to a dominant-negative reduction of the resulting potassium current at subthreshold membrane potentials PMID: 24318194
35. Kv7.2/7.3 channels increase action potential amplitude in neocortical myelinated axons. PMID: 24599470
36. This report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies. PMID: 24371303
37. This study confirms that KCNQ2 is frequently mutated de novo in neonatal onset epileptic encephalopathy. PMID: 23692823
38. KCNQ2 mutations cause approximately 13% of unexplained neonatal epileptic encephalopathy. Patients present with a wide spectrum of severity. PMID: 24107868
39. A medium-throughput assay reliably detects changes in the biophysical properties of three classes of KCNQ2/3 channels and peak current amplitude and therefore may serve as a reliable assay to evaluate KCNQ2/3 openers and blockers. PMID: 23002961
40. CaM can bridge two binding domains, anchoring helix A of one subunit to helix B of another subunit, in this way influencing the function of Kv7.2 channels. PMID: 23203804
41. This study demonistrated that early onset epileptic encephalopathies caused by KCNQ2 mutation. PMID: 23621294
42. the single KCNQ channel in Drosophila (dKCNQ) has similar electrophysiological properties to neuronal KCNQ2/3 PMID: 23209695
43. This study demonistrated that a KCNQ2 mutation in an Emirati family with benign familial neonatal seizures type 1. PMID: 23290024
44. This study demonistrated that benign neonatal sleep myoclonus can show autosomal dominant inheritance but not allelic to KCNQ2. PMID: 22447848
45. Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. PMID: 23440208
46. Occurrence of afebrile seizures during follow-up is associated with KCNQ2 mutations and may represent a predictive factor. PMID: 23360469
47. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. PMID: 22884718
48. Subclinical dysfunction of Kv7.2 in peripheral axons can be reliably detected non-invasively in adulthood; related alterations in neuronal excitability may contribute to epilepsy associated with KCNQ2 mutations. PMID: 23065794
49. KCNQ2 mutations can present with a neonatal onset multifocal myoclonus-like dyskinesia PMID: 22169383
50. the Kv7.2-Kv7.3 heteromer assembles as a tetramer with a predominantly 2:2 subunit stoichiometry and with a random subunit arrangement. PMID: 22334706

显示更多

收起更多

HGNC: 6296

OMIM: 121200

KEGG: hsa:3785

STRING: 9606.ENSP00000352035

UniGene: Hs.161851