KCNQ2

Summary

Gene Symbol: KCNQ2
Description: potassium voltage-gated channel subfamily Q member 2
Alias: BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2, potassium voltage-gated channel subfamily KQT member 2, neuroblastoma-specific potassium channel subunit alpha KvLQT2, potassium channel, voltage gated KQT-like subfamily Q, member 2, voltage-gated potassium channel subunit Kv7.2
Species: human
Products:     KCNQ2

Top Publications

  1. Surti T, Huang L, Jan Y, Jan L, Cooper E. Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels. Proc Natl Acad Sci U S A. 2005;102:17828-33 pubmed
    ..understand the regulation of neuronal KCNQ channels, we searched directly for posttranslational modifications on KCNQ2/KCNQ3 channels in vivo by using mass spectrometry. Here we describe two sites of phosphorylation...
  2. Rundfeldt C, Netzer R. The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits. Neurosci Lett. 2000;282:73-6 pubmed
    ..displays concordance with the published pharmacology of the M-channel, which recently was correlated to the KCNQ2/3 K(+) channel heteromultimere...
  3. Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 2004;63:57-65 pubmed
    Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current...
  4. Suh B, Inoue T, Meyer T, Hille B. Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels. Science. 2006;314:1454-7 pubmed
    ..Hence, the depletion of PI(4,5)P2 suffices to suppress current fully, and other second messengers are not needed. Our approach is ideally suited to study biological signaling networks involving membrane phosphoinositides. ..
  5. Biervert C, Schroeder B, Kubisch C, Berkovic S, Propping P, Jentsch T, et al. A potassium channel mutation in neonatal human epilepsy. Science. 1998;279:403-6 pubmed
    ..3 and 8q24. By positional cloning, a potassium channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain...
  6. Hoshi N, Zhang J, Omaki M, Takeuchi T, Yokoyama S, Wanaverbecq N, et al. AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists. Nat Neurosci. 2003;6:564-71 pubmed
    M-type (KCNQ2/3) potassium channels are suppressed by activation of G(q/11)-coupled receptors, thereby increasing neuronal excitability. We show here that rat KCNQ2 can bind directly to the multivalent A-kinase-anchoring protein AKAP150...
  7. Etxeberria A, Santana Castro I, Regalado M, Aivar P, Villarroel A. Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiation. J Neurosci. 2004;24:9146-52 pubmed
    ..Notably, in terms of excitation, mutations in either KCNQ2 or KCNQ3 lead to benign neonatal familial convulsions...
  8. Dedek K, Fusco L, Teloy N, Steinlein O. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 2003;54:21-7 pubmed
    Mutations in the voltage gated K(+)-channel gene KCNQ2 are known to cause benign familial neonatal convulsions (BFNC), which are characterized by a benign course, spontaneous remission and normal psychomotor development...
  9. Singh N, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain. 2003;126:2726-37 pubmed
    ..Previously our laboratory cloned two novel potassium channel genes, KCNQ2 and KCNQ3, and showed that they are mutated in patients with BFNC...

More Information

Publications102 found, 100 shown here

  1. Etxeberria A, Aivar P, Rodriguez Alfaro J, Alaimo A, Villacé P, Gómez Posada J, et al. Calmodulin regulates the trafficking of KCNQ2 potassium channels. FASEB J. 2008;22:1135-43 pubmed
    Voltage-dependent potassium KCNQ2 (Kv7.2) channels play a prominent role in the control of neuronal excitability...
  2. Alaimo A, Gómez Posada J, Aivar P, Etxeberria A, Rodriguez Alfaro J, Areso P, et al. Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum. J Biol Chem. 2009;284:20668-75 pubmed publisher
    ..We proposed that KCNQ2 K+ channel trafficking is regulated by CaM binding to the C-terminal A and B helices...
  3. Gómez Posada J, Aivar P, Alberdi A, Alaimo A, Etxeberria A, Fernandez Orth J, et al. Kv7 channels can function without constitutive calmodulin tethering. PLoS ONE. 2011;6:e25508 pubmed publisher
    ..2 that disrupt calmodulin binding cause Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited human epilepsy. On the basis that Kv7...
  4. Alaimo A, Alberdi A, Gomis Pèrez C, Fernandez Orth J, Gómez Posada J, Areso P, et al. Cooperativity between calmodulin-binding sites in Kv7.2 channels. J Cell Sci. 2013;126:244-53 pubmed publisher
    ..excitability and offering a rational mechanism to explain some forms of benign familial neonatal convulsions (BFNC)...
  5. Miceli F, Soldovieri M, Ambrosino P, Barrese V, Migliore M, Cilio M, et al. Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proc Natl Acad Sci U S A. 2013;110:4386-91 pubmed publisher
    ..2 encephalopathy. ..
  6. Singh N, Charlier C, Stauffer D, DuPont B, Leach R, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 1998;18:25-9 pubmed
    ..of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels...
  7. Wang H, Pan Z, Shi W, Brown B, Wymore R, Cohen I, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science. 1998;282:1890-3 pubmed
    ..The biophysical properties, sensitivity to pharmacological blockade, and expression pattern of the KCNQ2 and KCNQ3 potassium channels were determined...
  8. Schroeder B, Kubisch C, Stein V, Jentsch T. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature. 1998;396:687-90 pubmed
    ..familial neonatal convulsions (BFNC), an autosomal dominant epilepsy of infancy, is caused by mutations in the KCNQ2 or the KCNQ3 potassium channel genes...
  9. Schwake M, Pusch M, Kharkovets T, Jentsch T. Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. J Biol Chem. 2000;275:13343-8 pubmed
    Mutations in either KCNQ2 or KCNQ3 underlie benign familial neonatal convulsions (BFNC), an inherited epilepsy. The corresponding proteins are co-expressed in broad regions of the brain and associate to heteromeric K(+) channels...
  10. Yus Najera E, Santana Castro I, Villarroel A. The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels. J Biol Chem. 2002;277:28545-53 pubmed
    ..CaM co-immunoprecipitates with KCNQ2, KCNQ3, or KCNQ5 subunits better in the absence than in the presence of Ca2+...
  11. Wen H, Levitan I. Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels. J Neurosci. 2002;22:7991-8001 pubmed
    Calmodulin (CaM) was identified as a KCNQ2 and KCNQ3 potassium channel-binding protein, using a yeast two-hybrid screen...
  12. Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes L, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71:15-25 pubmed publisher
    b>KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more severe outcome exist, but a definite relationship has not been established...
  13. Selyanko A, Hadley J, Wood I, Abogadie F, Jentsch T, Brown D. Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. J Physiol. 2000;522 Pt 3:349-55 pubmed
    ..reduced (to 0-10%) currents produced by KCNQ1-4 subunits expressed individually and also those produced by KCNQ2 + KCNQ3 and KCNQ1 + KCNE1 heteromers, which are thought to generate neuronal M-currents (IK,M) and cardiac slow ..
  14. Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri M, et al. A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes. Neurology. 2003;61:131-4 pubmed
    ..A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 ..
  15. Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S. Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev. 2008;30:362-9 pubmed publisher
    Several mutations of KCNQ2 and KCNQ3 are considered to be associated with benign familial neonatal convulsions (BFNC)...
  16. Maljevic S, Lerche H. Potassium channel genes and benign familial neonatal epilepsy. Prog Brain Res. 2014;213:17-53 pubmed publisher
    ..Among them, KCNQ2 and KCNQ3, coding for KV7.2 and KV7...
  17. Shellhaas R, Wusthoff C, Tsuchida T, Glass H, Chu C, Massey S, et al. Profile of neonatal epilepsies: Characteristics of a prospective US cohort. Neurology. 2017;89:893-899 pubmed publisher
    ..Pathogenic or likely pathogenic KCNQ2 variants (n = 10) were the most commonly identified etiology of epileptic encephalopathy...
  18. Shah M, Huang Z, Martinello K. HCN and KV7 (M-) channels as targets for epilepsy treatment. Neuropharmacology. 2013;69:75-81 pubmed publisher
    ..Thus, mutations in KV7 channels that are associated with Benign Familial Neonatal Convulsions (BFNC) are likely to be epileptogenic...
  19. Gafar H, Dominguez Rodriguez M, Chandaka G, Salzer I, Boehm S, Schicker K. Membrane coordination of receptors and channels mediating the inhibition of neuronal ion currents by ADP. Purinergic Signal. 2016;12:497-507 pubmed publisher
    ..This juxtaposition may even result in apparent physical interactions between receptors and channels. ..
  20. Di Cesare Mannelli L, Lucarini E, Micheli L, Mosca I, Ambrosino P, Soldovieri M, et al. Effects of natural and synthetic isothiocyanate-based H2S-releasers against chemotherapy-induced neuropathic pain: Role of Kv7 potassium channels. Neuropharmacology. 2017;121:49-59 pubmed publisher
    ..Sistemically- or centrally-administered isothiocyanates reduced chemotherapy-induced neuropathic pain by releasing H2S. Activation of Kv7 channels largely mediate the anti-neuropathic effect. ..
  21. Aklujkar M, Risso C, Smith J, Beaulieu D, Dubay R, Giloteaux L, et al. Anaerobic degradation of aromatic amino acids by the hyperthermophilic archaeon Ferroglobus placidus. Microbiology. 2014;160:2694-709 pubmed publisher
    ..degradation similar to that of mesophilic nitrate-reducing bacteria, Thauera aromatica and Aromatoleum aromaticum EbN1. Phenylacetate, 4-hydroxyphenylacetate and indole-3-acetate were formed during anaerobic degradation of ..
  22. Jiang L, Kosenko A, Yu C, Huang L, Li X, Hoshi N. Activation of m1 muscarinic acetylcholine receptor induces surface transport of KCNQ channels through a CRMP-2-mediated pathway. J Cell Sci. 2015;128:4235-45 pubmed publisher
    ..This receptor-induced surface transport was observed with KCNQ2 as well as KCNQ3 homomeric channels, but not with Kv3.1 channels...
  23. Laumet G, Garriga J, Chen S, Zhang Y, Li D, Smith T, et al. G9a is essential for epigenetic silencing of K(+) channel genes in acute-to-chronic pain transition. Nat Neurosci. 2015;18:1746-55 pubmed publisher
    ..We found that nerve injury increased dimethylation of Lys9 on histone H3 (H3K9me2) at Kcna4, Kcnd2, Kcnq2 and Kcnma1 promoters but did not affect levels of DNA methylation on these genes in DRGs...
  24. Tarasen A, Carlson J, Leonard M, Merlino G, KAETZEL D, Slominski A. Pigmented Epithelioid Melanocytoma (PEM)/Animal Type Melanoma (ATM): Quest for an Origin. Report of One Unusual Case Indicating Follicular Origin and Another Arising in an Intradermal Nevus. Int J Mol Sci. 2017;18: pubmed publisher
    Pigmented epithelioid melanocytoma (PEM) is a tumor encompassing epithelioid blue nevus of Carney complex (EBN of CNC) and was previously termed animal-type melanoma...
  25. Czuczwar P, Wojtak A, Cioczek Czuczwar A, Parada Turska J, Maciejewski R, Czuczwar S. Retigabine: the newer potential antiepileptic drug. Pharmacol Rep. 2010;62:211-9 pubmed
    ..Initial clinical data suggest that retigabine may be also effective in Alzheimer's disease or stroke. ..
  26. Alaimo A, Alberdi A, Gomis Pèrez C, Fernandez Orth J, Bernardo Seisdedos G, Malo C, et al. Pivoting between calmodulin lobes triggered by calcium in the Kv7.2/calmodulin complex. PLoS ONE. 2014;9:e86711 pubmed publisher
    Kv7.2 (KCNQ2) is the principal molecular component of the slow voltage gated M-channel, which strongly influences neuronal excitability. Calmodulin (CaM) binds to two intracellular C-terminal segments of Kv7...
  27. Alberdi A, Gomis Pèrez C, Bernardo Seisdedos G, Alaimo A, Malo C, Aldaregia J, et al. Uncoupling PIP2-calmodulin regulation of Kv7.2 channels by an assembly destabilizing epileptogenic mutation. J Cell Sci. 2015;128:4014-23 pubmed publisher
    ..2 channels. Disruption of coiled-coil formation by epilepsy-causing mutation decreases apparent CaM-binding affinity and interrupts CaM influence on PIP2 sensitivity. ..
  28. Hoshi N, Langeberg L, Gould C, Newton A, Scott J. Interaction with AKAP79 modifies the cellular pharmacology of PKC. Mol Cell. 2010;37:541-50 pubmed publisher
    ..In neurons, muscarinic agonists mobilize an AKAP79-anchored pool of PKC that phosphorylates the KCNQ2 subunit of the M channel. This inhibits potassium permeability to enhance neuronal excitability...
  29. Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, et al. Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin. Biochim Biophys Acta. 2015;1852:1856-66 pubmed publisher
    Mutations in the KCNQ2 gene, encoding for voltage-gated Kv7...
  30. Büsing I, Kant M, Dörries M, Wöhlbrand L, Rabus R. The predicted σ(54)-dependent regulator EtpR is essential for expression of genes for anaerobic p-ethylphenol and p-hydroxyacetophenone degradation in "Aromatoleum aromaticum" EbN1. BMC Microbiol. 2015;15:251 pubmed publisher
    The denitrifying betaproteobacterium "Aromatoleum aromaticum" EbN1 anaerobically utilizes a multitude of aromatic compounds via specific peripheral degradation routes...
  31. Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 2013;54:1282-7 pubmed publisher
    b>KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE)...
  32. Ghassem M, Arihara K, Mohammadi S, Sani N, Babji A. Identification of two novel antioxidant peptides from edible bird's nest (Aerodramus fuciphagus) protein hydrolysates. Food Funct. 2017;8:2046-2052 pubmed publisher
    Edible bird's nest (EBN) is widely consumed as a delicacy and traditional medicine amongst the Chinese...
  33. Wuttke T, Jurkat Rott K, Paulus W, Garncarek M, Lehmann Horn F, Lerche H. Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology. 2007;69:2045-53 pubmed
    ..PNH was characterized by video and electromyography. The KCNQ2 gene was sequenced and K(V)7...
  34. Cavaliere S, Gillespie J, Hodge J. KCNQ channels show conserved ethanol block and function in ethanol behaviour. PLoS ONE. 2012;7:e50279 pubmed publisher
    In humans, KCNQ2/3 channels form an M-current that regulates neuronal excitability, with mutations in these channels causing benign neonatal familial convulsions...
  35. Corbin Leftwich A, Mossadeq S, Ha J, Ruchala I, Le A, Villalba Galea C. Retigabine holds KV7 channels open and stabilizes the resting potential. J Gen Physiol. 2016;147:229-41 pubmed publisher
  36. Pablo J, Pitt G. FGF14 is a regulator of KCNQ2/3 channels. Proc Natl Acad Sci U S A. 2017;114:154-159 pubmed publisher
    b>KCNQ2/3 (Kv7.2/7.3) channels and voltage-gated sodium channels (VGSCs) are enriched in the axon initial segment (AIS) where they bind to ankyrin-G and coregulate membrane potential in central nervous system neurons...
  37. Muhr E, Schühle K, Clermont L, Sünwoldt K, Kleinsorge D, Seyhan D, et al. Enzymes of anaerobic ethylbenzene and p-ethylphenol catabolism in 'Aromatoleum aromaticum': differentiation and differential induction. Arch Microbiol. 2015;197:1051-62 pubmed publisher
    The denitrifying bacterium 'Aromatoleum aromaticum' strain EbN1 is one of the best characterized bacteria regarding anaerobic ethylbenzene degradation...
  38. Kim H, Jeong M, Kim K, Jung C, Lee S, Kim H, et al. Protein arginine methylation facilitates KCNQ channel-PIP2 interaction leading to seizure suppression. elife. 2016;5: pubmed publisher
    ..Prmt1+/- mice exhibit epileptic seizures. Methylation of KCNQ2 channels at 4 arginine residues by Prmt1 enhances PIP2 binding, and Prmt1 depletion lowers PIP2 affinity of KCNQ2 ..
  39. Brant S, Okou D, Simpson C, Cutler D, Haritunians T, Bradfield J, et al. Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease. Gastroenterology. 2017;152:206-217.e2 pubmed publisher
    ..IL12B,PTGER4, and TNC for IBD; IL23R, PTGER4, and SNX20 (in strong linkage disequilibrium with NOD2) for CD; and KCNQ2 (near TNFRSF6B) for UC...
  40. Rubio A, Luoni M, Giannelli S, Radice I, Iannielli A, Cancellieri C, et al. Rapid and efficient CRISPR/Cas9 gene inactivation in human neurons during human pluripotent stem cell differentiation and direct reprogramming. Sci Rep. 2016;6:37540 pubmed publisher
    ..This system was employed to inactivate two genes associated with neurological disorder (TSC2 and KCNQ2) and achieved up to 85% efficiency of gene targeting in the differentiated cells...
  41. Manville R, Neverisky D, Abbott G. SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore. Biophys J. 2017;113:613-626 pubmed publisher
    ..Here, using co-immunoprecipitation with different channel domains, we found that SMIT1 binds to the KCNQ2 pore module...
  42. Cooper E, Aldape K, Abosch A, Barbaro N, Berger M, Peacock W, et al. Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc Natl Acad Sci U S A. 2000;97:4914-9 pubmed
    ..We here provide information regarding the in vivo distribution and biochemical characteristics of human brain KCNQ2 and KCNQ3, two channel subunits that form M-channels when expressed in vitro, and, when mutated, cause the ..
  43. Li Y, Langlais P, Gamper N, Liu F, Shapiro M. Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase. J Biol Chem. 2004;279:45399-407 pubmed
    ..Immunoprecipitation assays showed that Src associates with KCNQ2-5 subunits but phosphorylates only KCNQ3-5...
  44. Tomlinson S, Bostock H, Grinton B, Hanna M, Kullmann D, Kiernan M, et al. In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. Brain. 2012;135:3144-52 pubmed publisher
    Benign familial neonatal epilepsy is a neuronal channelopathy most commonly caused by mutations in KCNQ2, which encodes the K(v)7.2 subunit of the slow K(+) channel. K(v)7.2 is expressed in both central and peripheral nervous systems...
  45. Rim J, Kim S, Hwang I, Kwon S, Kim J, Kim H, et al. Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. BMC Med Genomics. 2018;11:6 pubmed publisher
    ..25 patients had pathogenic or likely pathogenic SNVs in 17 genes including SXTBP1 (n?=?3), CDKL5 (n?=?2), KCNQ2 (n?=?2), SCN1A (n?=?2), SYNGAP1 (n?=?2), GNAO1 (n?=?2), KCNT1 (n?=?2), BRAT1, WWOX, ZEB2, CHD2, PRICKLE2, COL4A1, ..
  46. Liu B, Liang H, Liu L, Zhang H. Phosphatidylinositol 4,5-bisphosphate hydrolysis mediates histamine-induced KCNQ/M current inhibition. Am J Physiol Cell Physiol. 2008;295:C81-91 pubmed publisher
    The M-type potassium channel, of which its molecular basis is constituted by KCNQ2-5 homo- or heteromultimers, plays a key role in regulating neuronal excitability and is modulated by many G protein-coupled receptors...
  47. Tawarayama H, Yamada H, Amin R, Morita Fujimura Y, Cooper H, Shinmyo Y, et al. Draxin regulates hippocampal neurogenesis in the postnatal dentate gyrus by inhibiting DCC-induced apoptosis. Sci Rep. 2018;8:840 pubmed publisher
    ..Furthermore, in vitro assays using a hippocampal neural stem/progenitor cell (HNSPC) line indicated that draxin inhibited apoptosis in differentiating HNSPCs, which express DCC...
  48. Bernardo Seisdedos G, Nuñez E, Gomis Pèrez C, Malo C, Villarroel A, Millet O. Structural basis and energy landscape for the Ca2+ gating and calmodulation of the Kv7.2 K+ channel. Proc Natl Acad Sci U S A. 2018;115:2395-2400 pubmed publisher
    The Kv7.2 (KCNQ2) channel is the principal molecular component of the slow voltage-gated, noninactivating K+ M-current, a key controller of neuronal excitability...
  49. Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller R, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81:1697-703 pubmed publisher
    To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy...
  50. Dyment D, Tetreault M, Beaulieu C, Hartley T, Ferreira P, Chardon J, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet. 2015;88:34-40 pubmed publisher
    ..A novel and rare mutation was identified in KCNQ2 and was likely responsible for the benign seizures segregating in the family though additional evidence would be ..
  51. Hani A, Mikati H, Mikati M. Genetics of pediatric epilepsy. Pediatr Clin North Am. 2015;62:703-22 pubmed publisher
    ..drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies.
  52. Ortega Moreno L, Giráldez B, Soto Insuga V, Losada Del Pozo R, Rodrigo Moreno M, Alarcón Morcillo C, et al. Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. PLoS ONE. 2017;12:e0188978 pubmed publisher
    ..5%) analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1)...
  53. Fedorenko O, Strutz Seebohm N, Henrion U, Ureche O, Lang F, Seebohm G, et al. A schizophrenia-linked mutation in PIP5K2A fails to activate neuronal M channels. Psychopharmacology (Berl). 2008;199:47-54 pubmed publisher
    ..Here, we study the effects of the neuronal PIP5K2A on KCNQ2, KCNQ5, KCNQ2/KCNQ3, and KCNQ3/KCNQ5 in the Xenopus expression system...
  54. Quiles J, Saladino F, Manes J, Fernandez Franzón M, Meca G. Occurrence of mycotoxins in refrigerated pizza dough and risk assessment of exposure for the Spanish population. Food Chem Toxicol. 2016;94:19-24 pubmed publisher
    ..AFB2), aflatoxin G1 (AFG1), zearalenone (ZEA), enniatin A (ENA), enniatin A1 (ENA1), enniatin (ENB), enniatin B1 (ENB1) and BEA (beauvericin) with average concentration of the positive samples of 4.09 ?g/kg, 0.50 ?g/kg, 0...
  55. Niday Z, Hawkins V, Soh H, Mulkey D, Tzingounis A. Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons. J Neurosci. 2017;37:576-586 pubmed publisher
    b>KCNQ2 potassium channels are critical for normal brain function, as both loss-of-function and gain-of-function KCNQ2 variants can lead to various forms of neonatal epilepsy...
  56. Gomis Pèrez C, Soldovieri M, Malo C, Ambrosino P, Taglialatela M, Areso P, et al. Differential Regulation of PI(4,5)P2 Sensitivity of Kv7.2 and Kv7.3 Channels by Calmodulin. Front Mol Neurosci. 2017;10:117 pubmed publisher
    ..3 was unaltered. Altogether, the data reveal that apo-CaM influences PI(4,5)P2 dependence of Kv7.2, Kv7.2/3, and of Kv7.3 channels in a subunit specific manner. ..
  57. Main M, Cryan J, Dupere J, Cox B, Clare J, Burbidge S. Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine. Mol Pharmacol. 2000;58:253-62 pubmed
    ..In the present study we have examined the effects of retigabine on recombinant human KCNQ2 and KCNQ3 potassium channels, expressed either alone or in combination in Xenopus oocytes...
  58. Maljevic S, Lerche C, Seebohm G, Alekov A, Busch A, Lerche H. C-terminal interaction of KCNQ2 and KCNQ3 K+ channels. J Physiol. 2003;548:353-60 pubmed
    Coexpression of KCNQ2 and KCNQ3 channels results in a 10-fold increased current amplitude compared to that of KCNQ2 alone, suggesting the formation of heteromultimeric channels. There is no interaction of either channel with KCNQ1...
  59. Goldberg Stern H, Kaufmann R, Kivity S, Afawi Z, Heron S. Novel mutation in KCNQ2 causing benign familial neonatal seizures. Pediatr Neurol. 2009;41:367-70 pubmed publisher
    Potassium channel subunits encoded by several genes of the KCNQ family underlie the M-current. Specifically, KCNQ2 and KCNQ3 play a major role at most neuronal sites...
  60. Hawkins N, Martin M, Frankel W, Kearney J, Escayg A. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiol Dis. 2011;41:655-60 pubmed publisher
    ..GEFS+, we used mouse models to study the effect of combining the human GEFS+ mutation SCN1A-R1648H with SCN2A, KCNQ2, and SCN8A mutations...
  61. Zhang D, Thimmapaya R, Zhang X, Anderson D, Baranowski J, Scanio M, et al. KCNQ2/3 openers show differential selectivity and site of action across multiple KCNQ channels. J Neurosci Methods. 2011;200:54-62 pubmed publisher
    b>KCNQ2/3 voltage-gated potassium channels conduct low-threshold, slowly activating and non-inactivating currents to repolarize the neuronal resting membrane potential...
  62. Zhang X, Zhang D, Surowy C, Yao B, Jarvis M, McGaraughty S, et al. Development and validation of a medium-throughput electrophysiological assay for KCNQ2/3 channel openers using QPatch HT. Assay Drug Dev Technol. 2013;11:17-24 pubmed publisher
    The KCNQ2/3 channel has emerged as a drug target for a number of neurological disorders including pain and epilepsy...
  63. Pisano T, Numis A, Heavin S, Weckhuysen S, Angriman M, Suls A, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56:685-91 pubmed publisher
    To describe the antiepileptic drug (AED) treatment of patients with early infantile epileptic encephalopathy due to KCNQ2 mutations during the neonatal phase and the first year of life...
  64. Hortigüela M, Fernández Marmiesse A, Cantarín V, Gouveia S, García Peñas J, Fons C, et al. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. J Hum Genet. 2017;62:185-189 pubmed publisher
    The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current...
  65. Lee T, Wani W, Koay Y, Kavita S, Tan E, Shreaz S. Recent advances in the identification and authentication methods of edible bird's nest. Food Res Int. 2017;100:14-27 pubmed publisher
    Edible bird's nest (EBN) is an expensive animal bioproduct due to its reputation as a food and delicacy with diverse medicinal properties. One kilogram of EBN costs ~$6000 in China...
  66. Blumkin L, Suls A, Deconinck T, De Jonghe P, Linder I, Kivity S, et al. Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. Eur J Paediatr Neurol. 2012;16:356-60 pubmed publisher
    Mutations in the potassium channel gene KCNQ2, usually cause benign familial neonatal epilepsy. This is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life...
  67. Orhan G, Bock M, Schepers D, Ilina E, Reichel S, Löffler H, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol. 2014;75:382-94 pubmed publisher
    Mutations in KCNQ2 and KCNQ3, encoding the voltage-gated potassium channels KV 7.2 and KV 7.3, are known to cause benign familial neonatal seizures mainly by haploinsufficiency...
  68. Mercimek Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner E, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56:707-16 pubmed publisher
    ..comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes...
  69. Yue L, Fan X, Peng H. Abilities and barriers to practicing evidence-based nursing for burn specialist nurses. Burns. 2018;44:397-404 pubmed publisher
    To explore the abilities and barriers of practicing evidence-based nursing (EBN) for burn specialist nurses so as to provide rationales for its clinical training and practice...
  70. Biervert C, Steinlein O. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet. 1999;104:234-40 pubmed
    Mutations in the voltage-gated potassium channel gene KCNQ2 on chromosome 20q13.3 are responsible for benign familial neonatal convulsions (BFNC), a rare monogenic idiopathic epilepsy...
  71. Suh B, Hille B. Electrostatic interaction of internal Mg2+ with membrane PIP2 Seen with KCNQ K+ channels. J Gen Physiol. 2007;130:241-56 pubmed
    ..The dose-response curves could be modeled by a competition model that reduces the pool of free PIP(2). This mechanism is likely to modulate many other PIP(2)-dependent ion channels and cellular processes. ..
  72. Soldovieri M, Boutry Kryza N, Milh M, Doummar D, Heron B, Bourel E, et al. Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat. 2014;35:356-67 pubmed publisher
    Mutations in the KCNQ2 and KCNQ3 genes encoding for Kv 7.2 (KCNQ2; Q2) and Kv 7.3 (KCNQ3; Q3) voltage-dependent K(+) channel subunits, respectively, cause neonatal epilepsies with wide phenotypic heterogeneity...
  73. Battefeld A, Tran B, Gavrilis J, Cooper E, Kole M. Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. J Neurosci. 2014;34:3719-32 pubmed publisher
    ..Thus, K(v)7 clustering near axonal Na(v) channels serves specific and context-dependent roles, both restraining initiation and enhancing conduction of the action potential...
  74. Kim R, Pless S, Kurata H. PIP2 mediates functional coupling and pharmacology of neuronal KCNQ channels. Proc Natl Acad Sci U S A. 2017;114:E9702-E9711 pubmed publisher
    ..a first-in-class antiepileptic drug that suppresses neuronal excitability through the activation of voltage-gated KCNQ2-5 potassium channels...
  75. Selyanko A, Hadley J, Wood I, Abogadie F, Delmas P, Buckley N, et al. Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell. J Neurosci. 1999;19:7742-56 pubmed
    ..It has recently been suggested that the M channel in sympathetic neurons comprises a heteromultimer of KCNQ2 and KCNQ3 (Wang et al., 1998) but it is unclear whether all other M-like currents are generated by these channels...
  76. Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur J Hum Genet. 2000;8:994-7 pubmed
    Benign familial neonatal convulsions (BFNC) is a rare autosomal inherited epilepsy. We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC...
  77. Islam M, Kanemura Y, Tajria J, Mori H, Kobayashi S, Hara M, et al. Functional expression of ABCG2 transporter in human neural stem/progenitor cells. Neurosci Res. 2005;52:75-82 pubmed
    ..in hNSPCs had prazosin-sensitive ATP hydrolysis activity, and the ABCG2 level was sharply down-regulated during hNSPC differentiation. All these results suggested that ABCG2, was functionally expressed in hNSPCs...
  78. Anta B, Martín Rodríguez C, Gomis Pèrez C, Calvo L, López Benito S, Calderón García A, et al. Ubiquitin-specific Protease 36 (USP36) Controls Neuronal Precursor Cell-expressed Developmentally Down-regulated 4-2 (Nedd4-2) Actions over the Neurotrophin Receptor TrkA and Potassium Voltage-gated Channels 7.2/3 (Kv7.2/3). J Biol Chem. 2016;291:19132-45 pubmed publisher
    ..2/3 channel regulation. Our results demonstrate that USP36 binds to and regulates the actions of Nedd4-2 over different substrates affecting their expression and functions. ..
  79. Choi S, Mukai J, Kvajo M, Xu B, Diamantopoulou A, Pitychoutis P, et al. A Schizophrenia-Related Deletion Leads to KCNQ2-Dependent Abnormal Dopaminergic Modulation of Prefrontal Cortical Interneuron Activity. Cereb Cortex. 2017;:1-17 pubmed publisher
    ..We further demonstrate that reduced KCNQ2 channel function in PV+ interneurons in Df(16)A+/- mice renders them less capable of inhibiting pyramidal neurons ..
  80. Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, et al. A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. Brain Dev. 2018;40:69-73 pubmed publisher
    The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), ..
  81. Smith J, Iannotti C, Dargis P, Christian E, Aiyar J. Differential expression of kcnq2 splice variants: implications to m current function during neuronal development. J Neurosci. 2001;21:1096-103 pubmed
    The KCNQ family of K(+) channels has been implicated in several cardiac and neurological disease pathologies. KCNQ2 (Q2) is a brain-derived gene, which in association with KCNQ3 (Q3) has been shown to provide a molecular basis for the ..
  82. Xiao J, Fischer C, Steinlein O, JianFeng X. Cloning and mutation analysis of the human potassium channel KCNQ2 gene promoter. Neuroreport. 2001;12:3733-9 pubmed
    ..neonatal convulsions (BFNC) have been previously found to be associated with mutations within the coding region of KCNQ2. We have now cloned and analyzed the promoter region of the human KCNQ2 gene...
  83. Soldovieri M, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, et al. Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. J Biol Chem. 2006;281:418-28 pubmed
    b>KCNQ2 and KCNQ3 K+ channel subunits underlie the muscarinic-regulated K+ current (I(KM)), a widespread regulator of neuronal excitability...
  84. Kearney J, Yang Y, Beyer B, Bergren S, Claes L, Dejonghe P, et al. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum Mol Genet. 2006;15:1043-8 pubmed
    ..The voltage-gated potassium channel Kcnq2 is responsible for generating M current (I(KM)) that is thought to control excitability and limit repetitive ..
  85. Heron S, Cox K, Grinton B, Zuberi S, Kivity S, Afawi Z, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet. 2007;44:791-6 pubmed
    ..familial neonatal seizures are most often caused by mutations in the voltage-gated potassium channel subunit gene KCNQ2. More than 60 mutations have been described in BFNS families, approximately half of which lead to protein ..
  86. Wickenden A, Krajewski J, London B, Wagoner P, Wilson W, Clark S, et al. N-(6-chloro-pyridin-3-yl)-3,4-difluoro-benzamide (ICA-27243): a novel, selective KCNQ2/Q3 potassium channel activator. Mol Pharmacol. 2008;73:977-86 pubmed
    b>KCNQ2 (Kv7.2) and KCNQ3 (Kv7.3) are voltage-gated K(+) channel subunits that underlie the neuronal M current. In humans, mutations in these genes lead to a rare form of neonatal epilepsy (Biervert et al., 1998; Singh et al...
  87. Neubauer B, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology. 2008;71:177-83 pubmed publisher
    To explore the involvement of M-type potassium channels KCNQ2, Q3, and Q5 in the pathogenesis of common idiopathic epilepsies...
  88. King C, Lancaster E, Salomon D, Peles E, Scherer S. Kv7.2 regulates the function of peripheral sensory neurons. J Comp Neurol. 2014;522:3262-80 pubmed publisher
    ..The functional role of Kv7.2 has been hampered by the lack of a viable Kcnq2-null animal model...
  89. Xu M, Cooper E. An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels. J Biol Chem. 2015;290:16619-32 pubmed publisher
    ..of action potential generation and conduction depends on the co-localization of voltage-gated sodium (Nav) and KCNQ2/3 potassium channel conductance at the distal axon initial segment (AIS) and nodes of Ranvier in a ratio of ∼..
  90. Zeng Q, Yang X, Zhang J, Liu A, Yang Z, Liu X, et al. Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. J Hum Genet. 2018;63:9-18 pubmed publisher
    ..9%). A total of 42 families had PRRT2 mutations, 9 had KCNQ2 mutations, 8 had SCN2A mutations, and 1 had a GABRA6 mutation...
  91. Hsieh Y, Chang C, Chen S, Chen C, Lin W, Tsai F. XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, and hOGG1 polymorphisms, are associated with higher susceptibility of endometriosis. Gynecol Endocrinol. 2012;28:305-9 pubmed publisher
    ..XRCC1 (codon 107, 194, 399), hOGG1, KCNQ2, AT1R polymorphisms were amplified by PCR and detected by electrophoresis after restriction enzyme (RsaI, HpaII, ..