Genomes and Genes
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
Publications242 found, 100 shown here
- A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy familyC Charlier
Department of Human Genetics, University of Utah, Salt Lake City 84112, USA
Nat Genet 18:53-5. 1998..By positional cloning, we recently identified the gene for EBN1 as KCNQ2 (ref. 9). This gene, a voltage-gated potassium channel, based on homology, is a member of the KQT-like family...
- A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardationR Borgatti
Divisione di Neuroriabilitazione 1, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
Neurology 63:57-65. 2004Benign 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...
- Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channelsByung Chang Suh
Department of Physiology and Biophysics, University of Washington School of Medicine, Seattle, WA 98195, USA
Science 314:1454-7. 2006..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...
- Nervous system KV7 disorders: breakdown of a subthreshold brakeSnezana Maljevic
Neurologische Klinik und Institut für Angewandte Physiologie, Universitat Ulm, Zentrum Klinische Forschung, Helmholtzstr 8 1, D 89081 Ulm, Germany
J Physiol 586:1791-801. 2008..diseases: cardiac arrhythmia (long QT syndrome) with or without congenital deafness (KCNQ1), a neonatal epilepsy (KCNQ2 and KCNQ3) and progressive deafness alone (KCNQ4)...
- Regulation of the voltage-gated K(+) channels KCNQ2/3 and KCNQ3/5 by serum- and glucocorticoid-regulated kinase-1Friderike Schuetz
School of Biomedical Sciences and Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia
Am J Physiol Cell Physiol 295:C73-80. 2008The voltage-gated KCNQ2/3 and KCNQ3/5 K(+) channels regulate neuronal excitability. We recently showed that KCNQ2/3 and KCNQ3/5 channels are regulated by the ubiquitin ligase Nedd4-2...
- A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornsN A Singh
Department of Human Genetics, University of Utah, Salt Lake City 84112, USA
Nat Genet 18:25-9. 1998..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...
- A potassium channel mutation in neonatal human epilepsyC Biervert
Institute for Human Genetics, University of Bonn, Bonn, Germany
Science 279:403-6. 1998..3 and 8q24. By positional cloning, a potassium channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain...
- KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channelH S Wang
Institute of Molecular Cardiology, Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
Science 282:1890-3. 1998..The biophysical properties, sensitivity to pharmacological blockade, and expression pattern of the KCNQ2 and KCNQ3 potassium channels were determined...
- Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptorsA A Selyanko
Department of Pharmacology, University College London, UK
J Physiol 522:349-55. 2000..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 ..
- Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsyM Schwake
Zentrum für Molekulare Neurobiologie Hamburg ZMNH, Universitat Hamburg, Martinistrasse 85, D 20246 Hamburg, Germany
J Biol Chem 275:13343-8. 2000Mutations 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...
- The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channelsEva Yus-Najera
Instituto Cajal, Consejo Superior de Investigaciones, Avenida, Dr Arce 37, 28002 Madrid, Spain
J Biol Chem 277:28545-53. 2002..CaM co-immunoprecipitates with KCNQ2, KCNQ3, or KCNQ5 subunits better in the absence than in the presence of Ca2+...
- Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channelsHua Wen
Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Neurosci 22:7991-8001. 2002Calmodulin (CaM) was identified as a KCNQ2 and KCNQ3 potassium channel-binding protein, using a yeast two-hybrid screen...
- Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2Karin Dedek
Zentrum für Molekulare Neurobiologie ZMNH, University Hamburg, Hamburg, Germany
Epilepsy Res 54:21-7. 2003Mutations 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...
- AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonistsNaoto Hoshi
Department of Biophysical Genetics, Kanazawa University Graduate School of Medicine, 13 1 Takara machi, Kanazawa, Ishikawa 920 8640, Japan
Nat Neurosci 6:564-71. 2003M-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...
- A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikesG Coppola
Department of Child Neuropsychiatry, 2nd University of Naples, Italy
Neurology 61:131-4. 2003..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 ..
- Calmodulin regulates the trafficking of KCNQ2 potassium channelsAinhoa Etxeberria
Unidad de Biofisica, CSIC UPV EHU, Universidad del Pais Vasco, Barrio Sarriena s n, 48940 Leioa, Spain
FASEB J 22:1135-43. 2008Voltage-dependent potassium KCNQ2 (Kv7.2) channels play a prominent role in the control of neuronal excitability...
- Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulumAlessandro Alaimo
Unidad de Biofisica, Consejo Superior de Investigaciones Cientificas Universidad del Pais Vasco Euskal Herriko Unibersitatea CSIC UPV EHU, Spain
J Biol Chem 284:20668-75. 2009..We proposed that KCNQ2 K+ channel trafficking is regulated by CaM binding to the C-terminal A and B helices...
- Kv7 channels can function without constitutive calmodulin tetheringJuan Camilo Gómez-Posada
Unidad de Biofisica, Consejo Superior de Investigaciones Científicas Universidad del País Vasco Euskal Herriko Unibersitatea, Leioa, Spain
PLoS ONE 6:e25508. 2011..2 that disrupt calmodulin binding cause Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited human epilepsy. On the basis that Kv7...
- KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathySarah Weckhuysen
Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
Ann Neurol 71:15-25. 2012b>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...
- Cooperativity between calmodulin-binding sites in Kv7.2 channelsAlessandro Alaimo
Unidad de Biofisica, CSIC UPV EHU, Universidad del Pais Vasco, Barrio Sarriena s n, 48940 Leioa, Spain
J Cell Sci 126:244-53. 2013..excitability and offering a rational mechanism to explain some forms of benign familial neonatal convulsions (BFNC)...
- Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunitsFrancesco Miceli
Department of Neuroscience, University of Naples Federico II, 80131 Naples, Italy
Proc Natl Acad Sci U S A 110:4386-91. 2013..2 encephalopathy...
- Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsyB C Schroeder
Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Germany
Nature 396:687-90. 1998..familial neonatal convulsions (BFNC), an autosomal dominant epilepsy of infancy, is caused by mutations in the KCNQ2 or the KCNQ3 potassium channel genes...
- Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiationAinhoa Etxeberria
Instituto Cajal Consejo Superior de Investigaciones Científicas CSIC, 28002 Madrid, Spain
J Neurosci 24:9146-52. 2004..Notably, in terms of excitation, mutations in either KCNQ2 or KCNQ3 lead to benign neonatal familial convulsions...
- Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsionsTakeshi Kanaumi
Department of Pediatrics, School of Medicine, Fukuoka University, 45 1, 7 chome Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
Brain Dev 30:362-9. 2008Several mutations of KCNQ2 and KCNQ3 are considered to be associated with benign familial neonatal convulsions (BFNC)...
- KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrumNanda A Singh
Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA
Brain 126:2726-37. 2003..Previously our laboratory cloned two novel potassium channel genes, KCNQ2 and KCNQ3, and showed that they are mutated in patients with BFNC...
- Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytesNathalie Strutz-Seebohm
Department of Physiology, University of Tuebingen, Tuebingen, Germany
Cell Physiol Biochem 18:57-66. 2006..channels expressed in epithelial tissues (KCNQ1, KCNQ5), inner ear structures (KCNQ1, KCNQ4) and the brain (KCNQ2-5)...
- Expression and function of the K+ channel KCNQ genes in human arteriesFu Liang Ng
Biomedical Sciences, Ion Channels and Cell Signalling, St George s, University of London, London, UK
Br J Pharmacol 162:42-53. 2011..Here, we have assessed KCNQ gene expression and function in human arteries ex vivo...
- The acrylamide (S)-2 as a positive and negative modulator of Kv7 channels expressed in Xenopus laevis oocytesSigrid Marie Blom
Section of Early Target Pharmacology and Physiology, H Lundbeck A S, Copenhagen, Denmark
PLoS ONE 4:e8251. 2009....
- Regulation of M(Kv7.2/7.3) channels in neurons by PIP(2) and products of PIP(2) hydrolysis: significance for receptor-mediated inhibitionDavid A Brown
Department of Pharmacology, University College London, London, WC1E 6BT, UK
J Physiol 582:917-25. 2007..Thus, inhibition by bradykinin can use product (IP(3)/Ca(2)+)-dependent or substrate (PIP(2)) dependent mechanisms, depending on Ca(2)+ availability and PIP(2) synthesis rates...
- Targeting the voltage sensor of Kv7.2 voltage-gated K+ channels with a new gating-modifierAsher Peretz
Department of Physiology and Pharmacology, The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
Proc Natl Acad Sci U S A 107:15637-42. 2010..Our data provide a structural framework for designing unique gating-modifiers targeted to the VSD of voltage-gated cation channels and used for the treatment of hyperexcitability disorders...
- Impact of our understanding of the genetic aetiology of epilepsyR M Gardiner
Department of Paediatrics, Royal Free and University College Medical School, UCL, Rayne Institute, London, UK
J Neurol 247:327-34. 2000..frontal lobe epilepsy is caused by mutations in CHRNA4, benign familial neonatal convulsions by mutations in KCNQ2 and KCNQ3, and generalised epilepsy with febrile seizures plus by mutations in SCN1B...
- Participation of KCNQ (Kv7) potassium channels in myogenic control of cerebral arterial diameterXi Zoë Zhong
Ion Channels and Cell Signaling Centre, Division of Basic Medical Sciences, St George s University of London, London SW17 0RE, UK
J Physiol 588:3277-93. 2010..KCNQ4 message was more abundant than KCNQ5 = KCNQ1, but KCNQ2 and KCNQ3 message levels were negligible. Kv7.1, Kv7.4 and Kv7...
- Kv7.2-7.5 voltage-gated potassium channel (KCNQ2-5) opener, retigabine, reduces capsaicin-induced visceral pain in miceKazufumi Hirano
Pharmacology Department, Tsukuba Research Laboratories, High Throughput Biology, Discovery Research, GlaxoSmithKline, 43 Wadai, Tsukuba 300 4247, Japan
Neurosci Lett 413:159-62. 2007K(v)7.2-7.5 voltage-gated potassium channels (KCNQ2-5) are associated with M-current and known to distribute in the nociceptive sensory pathway (e.g., dorsal root ganglia and spinal cord)...
- Differential expression of genes encoding subthreshold-operating voltage-gated K+ channels in brainM J Saganich
Department of Physiology and Neuroscience and Department of Biochemistry, New York University School of Medicine, New York, New York 10016
J Neurosci 21:4609-24. 2001..These distributions were compared with those of the mRNAs encoding the components of the classical M-current (Kcnq2 and Kcnq3)...
- Cell-based potassium ion channel screening using the FluxOR assayDaniel W Beacham
Cellular Systems Division, Invitrogen Molecular Probes, Life Technologies Corporation, Eugene, Oregon 97402, USA
J Biomol Screen 15:441-6. 2010..The FluxOR assay was able to identify several known specific inhibitors of Kv7.2/7.3 or hERG, highlighting its potential to identify novel and more efficacious small-molecule modulators...
- M channel KCNQ2 subunits are localized to key sites for control of neuronal network oscillations and synchronization in mouse brainE C Cooper
Department of Neurology, University of California, San Francisco, San Francisco, California 94143 0725, USA
J Neurosci 21:9529-40. 2001Mutations in the potassium channel subunit KCNQ2 lead to benign familial neonatal convulsions, a dominantly inherited form of generalized epilepsy...
- Chronic electroconvulsive stimulation but not chronic restraint stress modulates mRNA expression of voltage-dependent potassium channels Kv7.2 and Kv11.1 in the rat piriform cortexMarie Louise Hjaeresen
Laboratory of Neuropsychiatry 6102, Rigshospitalet University Hospital, 9 Blegdamsvej, Copenhagen OE, Denmark
Brain Res 1217:179-84. 2008..2 and Kv11.1 function in the piriform cortex, a finding with potential relevance for the chain of neurobiological events underlying the clinical effects of ECT...
- Desensitization of chemical activation by auxiliary subunits: convergence of molecular determinants critical for augmenting KCNQ1 potassium channelsZhaobing Gao
Department of Neuroscience and High Throughput Biology Center, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
J Biol Chem 283:22649-58. 2008..Zinc pyrithione (ZnPy) is a newly identified KCNQ channel opener, which potently activates KCNQ2, KCNQ4, and KCNQ5. However, the ZnPy effects on cardiac KCNQ1 potassium channels remain largely unknown...
- [Opercular epileptic syndrome: an unusual form of benign partial epilepsy in childhood]J M Prats
, Hospital de Cruces, Baracaldo, Vizcaya,
Rev Neurol 29:375-80. 1999..A third patient suffered benign familial neonatal convulsions (BFNC). In all four patients the actual illness begun as a BECRS with opercular troubles as an ictal phenomena...
- Involvement of KCNQ2 subunits in [3H]dopamine release triggered by depolarization and pre-synaptic muscarinic receptor activation from rat striatal synaptosomesMaria Martire
Institute of Pharmacology, School of Medicine, Catholic University of S Heart, Rome, Italy
J Neurochem 102:179-93. 2007b>KCNQ2 and KCNQ3 subunits encode for the muscarinic-regulated current (I(KM)), a sub-threshold voltage-dependent K+ current regulating neuronal excitability...
- A spontaneous mutation involving Kcnq2 (Kv7.2) reduces M-current density and spike frequency adaptation in mouse CA1 neuronsJames F Otto
Anticonvulsant Drug Development Program, Department of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah 84112, USA
J Neurosci 26:2053-9. 2006..Mutations in two subunits (KCNQ2 and KCNQ3; Kv7.2 and Kv7...
- [Benign familial neonatal convulsions in a family with one member with infantile spasms]K Mori
Department of Pediatrics, Social Insurance Ritsurin Hospital, Takamatsu
No To Hattatsu 24:581-6. 1992A pedigree of benign familial neonatal convulsions (BFNC) was reported. Seven members of two generations experienced convulsions in the neonatal period and/or in early infancy. All of these members except one had a good prognosis...
- Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndromeG M Terwindt
Department of Neurology, Leiden University Medical Center, The Netherlands
Epilepsia 38:915-21. 1997..two other dominantly inherited benign epilepsies occurring in the first year of life, benign familial neonatal convulsions (BFNC), assigned to chromosomes 20q13.2 and 8q, and benign infantile familial convulsions (BIFC), as yet unlinked.
- Benign familial neonatal convulsions: always benign?O K Steinlein
Institute of Human Genetics, University Hospital, Ludwig Maximillians University, Goethestr 29, D 80336 Munich, Germany
Epilepsy Res 73:245-9. 2007Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant seizure disorder usually described to be characterized by a benign course, spontaneous remission and normal psychomotor development...
- Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domainsHee Jung Chung
Departments of Physiology and Biochemistry, Howard Hughes Medical Institute, University of California, San Francisco, CA 94143
Proc Natl Acad Sci U S A 103:8870-5. 2006The M channels, important regulators of neuronal excitability, are voltage-gated potassium channels composed of KCNQ2-5 subunits...
- Affinity for phosphatidylinositol 4,5-bisphosphate determines muscarinic agonist sensitivity of Kv7 K+ channelsCiria C Hernandez
Department of Physiology, University of Texas Health Science Center, San Antonio, TX 78229, USA
J Gen Physiol 134:437-48. 2009..We were able to fully reproduce our data and extract a consistent set of PIP(2) affinities...
- Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plusNicole A Hawkins
Neuroscience Graduate Program, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Neurobiol Dis 41:655-60. 2011..GEFS+, we used mouse models to study the effect of combining the human GEFS+ mutation SCN1A-R1648H with SCN2A, KCNQ2, and SCN8A mutations...
- Channelopathies can cause epilepsy in manOrtrud K Steinlein
Institute of Human Genetics, Friedrich Wilhelms University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
Eur J Pain 6:27-34. 2002..receptor lead to familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been found to cause benign familial neonatal convulsions...
- [Genetic background of epilepsies]Anna Kelemen
Orszagos Pszichiatriai es Neurologiai Intezet, Budapest
Ideggyogy Sz 57:141-51. 2004..are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions...
- Genes involved in the anaerobic degradation of ethylbenzene in a denitrifying bacterium, strain EbN1Ralf Rabus
Max Planck Institut für Marine Mikrobiologie, Celsiusstrasse 1, 28359 Bremen, Germany
Arch Microbiol 178:506-16. 2002..in anaerobic degradation of the petroleum hydrocarbon ethylbenzene in the denitrifying Azoarcus-like strain EbN1 were identified on a 56-kb DNA contig obtained from shotgun sequencing...
- A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsionsAtsushi Ishii
Department of Pediatrics, School of Medicine, Fukuoka University, 45 1, 7 chome Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
Brain Dev 31:27-33. 2009The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e...
- The neuronal nicotinic acetylcholine receptor in some hereditary epilepsiesF J Barrantes
Instituto de Investigaciones Bioquimicas de Bahia Blanca, Argentina
Neurochem Res 25:583-90. 2000..identification of mutations in the alpha4 subunit of neuronal AChR in human benign familial neonatal convulsions (BFNC) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) raise the possibility that the observed gene ..
- Impaired M-current and neuronal excitabilityMotohiro Okada
Department of Neuropsychiatry, Hirosaki University, Hirosaki, Japan
Epilepsia 43:36-8. 2002..Several mutations of either KCNQ2 or KCNQ3, members of the KCNQ-related K+-channel (KCNQ-channel) family, were identified as a cause of BFNC...
- K+ M-current regulates the transition to seizures in immature and adult hippocampusCuie Qiu
Drexel University College of Medicine, 245 15th Street, Philadelphia, PA 19348, U S A
Epilepsia 48:2047-58. 2007..2 or Kv7.3 K(+) channel subunits underlies the neonatal epilepsy benign familial neonatal convulsions (BFNC)...
- A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsionsHaiyan Li
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
Epilepsy Res 79:1-5. 2008..Two voltage-gated potassium channel subunit genes, KCNQ2 and KCNQ3, have been identified to cause BFNC1 and BFNC2, respectively...
- Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8qT B Lewis
Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284
Am J Hum Genet 53:670-5. 1993The syndrome of benign familial neonatal convulsions (BFNC) is a rare autosomal dominant disorder characterized by unprovoked seizures in the first few weeks of life...
- Cloning and functional expression of rKCNQ2 K(+) channel from rat brainF Jow
Department of Neuroscience, Wyeth Ayerst Research, CN 8000, 08543, Princeton, NJ, USA
Brain Res Mol Brain Res 80:269-78. 2000..rKCNQ2 shares 96% amino acid identity with human KCNQ2 in which mutations cause a form of epilepsy known as benign familial neonatal convulsions (BFNC)...
- Neonatal epilepsy syndromes and GEFS+: mechanistic considerationsDaniel L Burgess
Baylor College of Medicine, Houston, TX, USA
Epilepsia 46:51-8. 2005..These genes encode voltage-gated Na+ channel subunits (SCN1A, SCN2A, SCN1B), voltage-gated K+ channel subunits (KCNQ2, KCNQ3), and a ligand-gated neurotransmitter receptor subunit (GABRG2)...
- Localization of a gene for a glutamate binding subunit of a NMDA receptor (GRINA) to 8q24T B Lewis
Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio 78284, USA
Genomics 32:131-3. 1996..A form of inherited epilepsy, benign familial neonatal convulsions (BFNC), has also been localized to chromosome 8...
- [Benign familial neonatal convulsions: molecular pathology and diagnosis]O K Steinlein
Institut fur Humangenetik, Rheinische Friedrich Wilhelms Universitat Bonn
Nervenarzt 71:611-5. 2000..Linkage studies located genes to chromosome 20q13.3 and 8q24, and the voltage-gated potassium channels KCNQ2 and KCNQ3 were recently identified...
- The genome sequence of an anaerobic aromatic-degrading denitrifying bacterium, strain EbN1Ralf Rabus
Max Planck Institut für Marine Mikrobiologie, Celsiusstrasse 1, 28359, Bremen, Germany
Arch Microbiol 183:27-36. 2005..Here we present the first complete genome of a metabolically versatile representative, strain EbN1, which metabolizes various aromatic compounds, including hydrocarbons. A circular chromosome (4...
- Immunohistochemical analysis of KCNQ3 potassium channels in mouse brainJulia Geiger
Department of Neurology, University of Ulm, Germany
Neurosci Lett 400:101-4. 2006KCNQ-type potassium channels generate the so-called M-current regulating excitability in many neurons. Mutations in KCNQ2/KCNQ3 channels can cause benign familial neonatal convulsions (BFNC)...
- Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)Yoshihiro Sugiura
Department of Neurology, Fukushima Medical University, School of Medicine, Fukushima, Japan
Epilepsy Res 84:82-5. 2009BFNC is an autosomal dominant epileptic disorder caused by mutations of KCNQ2 or KCNQ3 potassium channel gene. W309R missense mutation in KCNQ3 gene was previously reported in a family with BFNC...
- Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsionsJames F Otto
Department of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah, USA
Epilepsia 50:1752-9. 2009Benign familial neonatal convulsions (BFNC) is caused by mutations in the KCNQ2 and KCNQ3 genes, which encode subunits of the M-type potassium channel...
- Andreas Rett and benign familial neonatal convulsions revisitedF Zimprich
Department of Clinical Neurology, Medical University of Vienna, Austria
Neurology 67:864-6. 2006In 1964 Andreas Rett published the first account of a family with benign familial neonatal convulsions (BFNC)...
- Zinc pyrithione-mediated activation of voltage-gated KCNQ potassium channels rescues epileptogenic mutantsQiaojie Xiong
Department of Neuroscience, High Throughput Biology Center, School of Medicine, Johns Hopkins University, 733 North Broadway, Baltimore, Maryland 21205, USA
Nat Chem Biol 3:287-96. 2007..Human mutations of KCNQ2 and KCNQ3 potassium channel genes result in reduction or loss of channel activity and cause benign familial ..
- Identification and substrate specificity of a ferrichrome-type siderophore transporter (Arn1p) in Saccharomyces cerevisiaeP Heymann
Institut für Mikrobiologie and Biotechnologie, Universitat Tubingen, Auf der Morgenstelle 28, D 72076, Tubingen, Germany
FEMS Microbiol Lett 186:221-7. 2000..for heterologous siderophores have been identified in Saccharomyces cerevisiae, of which SIT1, TAF1, and ENB1 encode the transporters for ferrioxamines, ferric triacetylfusarinine C and ferric enterobactin, respectively...
- Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensorE Miraglia del Giudice
Department of Pediatrics, Second University of Naples, Italy
Eur J Hum Genet 8:994-7. 2000Benign 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...
- Genes and mutations in idiopathic epilepsyO K Steinlein
Institute of Human Genetics, University of Bonn, Germany
Am J Med Genet 106:139-45. 2001..are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been identified in benign familial neonatal convulsions...
- Genetic identifiers of epilepsySunao Kaneko
Department of Neuropsychiatry, Hirosaki University, Hirosaki, Japan
Epilepsia 43:16-20. 2002..Pathogenesis of epilepsy as a channelopathy and of BFNC also is discussed.
- Postpartum reproductive function: association with energy, metabolic and endocrine status in high yielding dairy cowsMartin Reist
Animal Breeding Group, Institute of Animal Science, Swiss Federal Institute of Technology, CH 8092 Zurich, Switzerland
Theriogenology 59:1707-23. 2003..EB) traits were calculated and expressed as accumulated negative EB from calving to EB equilibrium, EB nadir (EBN), rate of EB recovery after EBN (EBR), and time from calving to EBN and to EB equilibrium, respectively...
- Ionic permeation and conduction properties of neuronal KCNQ2/KCNQ3 potassium channelsDavid L Prole
Department of Pharmacology and MRC Centre for Synaptic Plasticity, University of Bristol, Bristol, United Kingdom
Biophys J 86:1454-69. 2004Heteromeric KCNQ2/3 potassium channels are thought to underlie the M-current, a subthreshold potassium current involved in the regulation of neuronal excitability...
- [A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family]Xi Hui Zhou
Department of Pediatrics, First Affiliated Hospital, Medical College of Xi an Jiaotong University, Xi an 710061, China
Zhonghua Er Ke Za Zhi 44:487-91. 2006..The authors investigated the relation of voltage-gated potassium channel gene KCNQ2 to BFIC in a Chinese family and thus to understand the molecular pathogenesis of BFIC.
- M-channels (Kv7/KCNQ channels) that regulate synaptic integration, excitability, and spike pattern of CA1 pyramidal cells are located in the perisomatic regionHua Hu
Department of Physiology at Institute of Basal Medicine and Centre of Molecular Biology and Neuroscience, University of Oslo, PB 1103 Blindern, N 0317 Oslo, Norway
J Neurosci 27:1853-67. 2007..M-channels (encoded by Kv7.2-Kv7.5/KCNQ2-KCNQ5 genes) have multiple important functions in neurons, including control of excitability, spike ..
- Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsyThomas V Wuttke
Neurological Clinic, University of Ulm, Germany
J Physiol 586:545-55. 2008The voltage-gated potassium channels KV7.2 and KV7.3 (genes KCNQ2 and KCNQ3) constitute a major component of the M-current controlling the firing rate in many neurons...
- Mixing-controlled biodegradation in a toluene plume--results from two-dimensional laboratory experimentsRobert D Bauer
Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Groundwater Ecology, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
J Contam Hydrol 96:150-68. 2008..5 h. In comparison, under similar conditions Aromatoleum aromaticum strain EbN1 degraded 98% of the toluene infiltrated using nitrate (68.5+/-6.2 mg L(-1)) as electron acceptor...
- A tale of switched functions: from cyclooxygenase inhibition to M-channel modulation in new diphenylamine derivativesAsher Peretz
Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
PLoS ONE 2:e1332. 2007..Our results reveal a new and crucial determinant of NSAID-mediated COX inhibition. They also provide a structural framework for designing novel M-channel modulators, including openers and blockers...
- Cardiovascular KCNQ (Kv7) potassium channels: physiological regulators and new targets for therapeutic interventionAlexander R Mackie
Loyola University Medical Center, 2160 S First Avenue, Maywood, IL 60153, USA
Mol Pharmacol 74:1171-9. 2008....
- Kv7 channels as targets for the treatment of painA D Wickenden
Johnson and Johnson Pharmaceutical Research and Development, L L C, 3210 Merryfield Row, San Diego, CA 92121, USA
Curr Pharm Des 15:1773-98. 2009..x as drug targets for the treatment of pain. In addition, an update on pre-clinical Kv7 drug discovery efforts will be presented, along with a summary of on-going clinical trials with Kv7 channel activators...
- Further data on the presence of Fusarium emerging mycotoxins enniatins, fusaproliferin and beauvericin in cereals available on the Spanish marketsGiuseppe Meca
Laboratory of Food Chemistry and Toxicology, Faculty of Pharmacy, University of Valencia, Av Vicent Andres Estelles s n, Burjassot, Valencia, Spain
Food Chem Toxicol 48:1412-6. 2010..community (Spain) were investigated for the presence of six emerging mycotoxins: enniatins ENs (ENA, ENA1, ENB and ENB1), beauvericin (BEA) and fusaproliferin (FUS)...
- Isoform-specific prolongation of Kv7 (KCNQ) potassium channel opening mediated by new molecular determinants for drug-channel interactionsZhaobing Gao
Department of Neuroscience, High Throughput Biology Center, School of Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
J Biol Chem 285:28322-32. 2010Kv7 channels, especially Kv7.2 (KCNQ2) and Kv7.3 (KCNQ3), are key determinants for membrane excitability in the brain...
- Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndromeFatma F Kamoun
Research Unit of Neuropediatrics, Department of Child Neurology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia
Neurosciences (Riyadh) 17:74-7. 2012..The diagnosis of ring chromosome 20 was suspected and confirmed by karyotype. The cytogenetic study of CHRNA4 and KCNQ2 genes did not detect deletion in the ring chromosome 20...
- An overview of 2D DIGE analysis of marine (environmental) bacteriaRalf Rabus
Institute of Biology and Chemistry of the Marine Environment ICBM, University Oldenburg, Oldenburg, Germany
Methods Mol Biol 854:355-72. 2012..in the marine aerobic heterotrophs Rhodopirellula baltica SH1 (Planctomycetes) and Phaeobacter gallaeciensis DSM 17395 (Roseobacter clade) and the anaerobic aromatic compound degrader Aromatoleum aromaticum EbN1 (Betaproteobacteria).
- Kv3 channels contribute to the delayed rectifier current in small cultured mouse dorsal root ganglion neuronsElke Bocksteins
Laboratory for Molecular Biophysics, Physiology and Pharmacology, Department of Biomedical Sciences, University of Antwerp, Campus Drie Eiken, Belgium
Am J Physiol Cell Physiol 303:C406-15. 2012..block, indicating that the ScTx-insensitive part of I(K) could include K(V)1, K(V)3, and/or M-current channels (KCNQ2/3)...
- Developmental expression of Kv potassium channels at the axon initial segment of cultured hippocampal neuronsDiana Sanchez-Ponce
Department of Functional and Systems Neurobiology, Instituto Cajal, Consejo Superior de Investigaciones Cientificas, Madrid, Spain
PLoS ONE 7:e48557. 2012..This distribution of potassium channels in the AIS further emphasizes the heterogeneity of this structure in different neuronal populations, as proposed previously, and suggests corresponding differences in action potential regulation...
- Oral mexiletine for lidocaine-responsive neonatal epilepsyMika Nakazawa
Department of Pediatrics, Juntendo University Faculty of Medicine, Japan Department of Pediatrics, Juntendo Nerima Hospital, Japan
Brain Dev 35:667-9. 2013..No mutation was identified in any of four genes: SCN1A, SCN1B, KCNQ2, and KCNQ3...
- Proteomic profile of edible bird's nest proteinsXiaoqing Liu
Shenzhen Academy of Metrology and Quality Inspection, Shenzhen 518102, People s Republic of China
J Agric Food Chem 60:12477-81. 2012Edible bird's nest (EBN) is made of the swiftlets' saliva, which has attracted rather more attention owing to its nutritious and medical properties...
- Converging Evidence for Epistasis between ANK3 and Potassium Channel Gene KCNQ2 in Bipolar DisorderJennifer Toolan Judy
Department of Psychiatry, Johns Hopkins School of Medicine Baltimore, MD, USA
Front Genet 4:87. 2013..The most significant interaction in the discovery GWAS was between SNPs in ANK3 and KCNQ2 (p = 3.18 × 10(-8))...
- Establishment of a holistic and scientific protocol for the authentication and quality assurance of edible bird's nestMei Yang
Research Group for Bioactive Products, Department of Biology and Chemistry, City University of Hong Kong, 83 Tat Chee Avenue, Kowloon, Hong Kong Special Administrative Region
Food Chem 151:271-8. 2014Edible bird's nest (EBN) is a prestigious and superior functional food. It is expensive due to its limited supply and enormous demand. Consequently, many fake products are available in the market...
- Pivoting between calmodulin lobes triggered by calcium in the Kv7.2/calmodulin complexAlessandro Alaimo
Unidad de Biofisica, CSIC, UPV EHU, Universidad del Pais Vasco, Leioa, Spain
PLoS ONE 9:e86711. 2014Kv7.2 (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...
- Promotion of Evidence-Based Nursing by Polish and foreign nursing organizationsIga Wasowska
Institute of Nursing and Midwifery, Jagiellonian University Medical College Kraków, Poland
Folia Med Cracov 54:65-70. 2014The aim of the review was to obtain information on specific activities undertaken by professional nursing organizations, in order to promote and develop Evidence-Based Nursing (EBN).
- Enzyme immunoassay for the detection of porcine gelatine in edible bird's nestsNur Azira Tukiran
a Laboratory of Halal Science Research, Halal Products Research Institute, Universiti Putra Malaysia, UPM Serdang, Malaysia
Food Addit Contam Part A Chem Anal Control Expo Risk Assess 32:1023-8. 2015..5 ng µg(-1) (0.05%) porcine gelatine in spiked samples. The proposed ELISA offers attractions for quality control in the EBN industry.
- Variable clinical expression in patients with mosaicism for KCNQ2 mutationsMathieu Milh
INSERM, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France
Am J Med Genet A 167:2314-8. 2015Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity...
- Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsyJuanjuan Wang
Department of Neonatology, First Affiliated Hospital of Xi an Jiaotong University, No 277, Yanta West Road, Xi an, Shaanxi 710061, People s Republic of China Ion Channel Disease Laboratory, Key Laboratory of Environment and Gene Associated Diseases, Ministry of Education, Xi an Jiaotong University, No 277, Yanta West Road, Xi an, Shaanxi 710061, People s Republic of China
Brain Res 1616:112-22. 2015..The first glycine (G) residue in the pore helix of Kv7.2 (KCNQ2) subunit is highly conserved among different classes of Kv7 channel family...
- Potent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitusBopanna I Kalappa
Department of Otolaryngology and Neurobiology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261
J Neurosci 35:8829-42. 2015..Genetic or experience-dependent reduction of KCNQ2/3 channel activity is linked with disorders that are characterized by neuronal hyperexcitability, such as epilepsy ..
- Clinical and genetic features of 13 Spanish patients with KCNQ2 mutationsMontesclaros Hortigüela
Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain
J Hum Genet 62:185-189. 2017The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current...
- KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patientsJohn J Millichap
Authors affiliations are listed at the end of the article
Neurol Genet 2:e96. 2016To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini
Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children s Hospital, University of Florence, Florence, Italy
Hum Mutat 38:216-225. 2017..SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2...
- N-tert-butylmethanimine N-oxide is an efficient spin-trapping probe for EPR analysis of glutathione thiyl radicalMelanie J Scott
Department of Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Sci Rep 6:38773. 2016..Herein we report a novel protocol for the synthesis of N-tert-butylmethanimine N-oxide (EBN), which is the simplest nitrone containing an α-H and a tertiary α'-C atom...
- KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currentsB C Schroeder
Zentrum fur Molekulare Neurobiologie Hamburg, Hamburg University, Martinistrasse 85, D 20246 Hamburg, Germany
J Biol Chem 275:24089-95. 2000b>KCNQ2 and KCNQ3, both of which are mutated in a type of human neonatal epilepsy, form heteromeric potassium channels that are expressed in broad regions of the brain...
- A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsionsS Hirose
Department of Pediatrics, School of Medicine, Fukuoka University, Japan
Ann Neurol 47:822-6. 2000..We found a T to C substitution (c.925T-C) on one allele of affected individuals in a Japanese family with BFNC but not on 200 alleles from healthy subjects. c...
- ANASTASIOS TZINGOUNIS; Fiscal Year: 2015..Kcnq1), progressive hearing loss (Kcnq4) and benign familial neonatal convulsions (BFNC), a pediatric epilepsy (Kcnq2, Kcnq3)...
- Development of Chemical Probes for KCNQ Potassium ChannelsMin Li; Fiscal Year: 2009..library (>100,000 compounds) and validate lead compounds that specifically ACTIVATE the heteromultimeric KCNQ2/3 potassium channel 2. To conduct the secondary assays and counter screen against KCNQ1, 4 and 5. 3...
- Naoto Hoshi; Fiscal Year: 2014..To date, a number of mutations in the genes encoding the M channel, KCNQ2, 3, 4 and 5, have been reported to cause neurological disorders such as epilepsy and neuromyotonia...
- Mechanism and functional role of AKAP79/150 in M current controlMark S Shapiro; Fiscal Year: 2012..In this project, we will study the transcriptional regulation of KCNQ2-3 channels in superior cervical ganglion (SCG) sympathetic neurons via NFATc1-c4 members, which are activated by ..
- Edward C Cooper; Fiscal Year: 2016DESCRIPTION (provided by applicant): Mutations in KCNQ2 or KCNQ3 cause benign familial neonatal seizures (BFNS), a dominantly-inherited, highly penetrant early-onset epilepsy syndrome...
- Developmental regulation of K+ M-current in brainMELANIE TALLENT; Fiscal Year: 2007..KCNQ subtypes of K+ channels have been shown to underlie IM; in the brain KCNQ2/KCNQ3 and KCNQ3/KCNQ5 heterotetramers appear to make up native M-channels...
- Functions and Disorders of K Channels in the Ineer EarTsung Yu Chen; Fiscal Year: 2012..In Aim 1, we hypothesize although KCNQ2-5 channels are derived from different genes, the channels interact to produce diverse current phenotypes in the ..
- SONYA MARIE BIERBOWER; Fiscal Year: 2014..Produced by combinations of KCNQ2-5 subunits, voltage-gated M channels play critical roles in control of neuronal excitability, and action potential ..
- Axonal alterations in demyelinating diseasesSTEVEN SIMON SCHERER; Fiscal Year: 2011We hypothesize that in normal myelinated PNS axons, the combination of Kv1.1, Kv1.2, KCNQ2, and KCNQ3 is necessary for repolarization, and that the misexpression of Kv3...
- Cellular mechanisms of the saccade generating circuitJAMES GNADT; Fiscal Year: 2006..in the premotor neuronal structures of the saccade generating circuit, namely, the excitatory burst neurons (EBN) and the omnipause neurons (OPN)...
- CARDIOVASCULAR ROLE OF SYMPATHETIC K+ CHANNEL GENESPeter Brink; Fiscal Year: 2003..These investigators have recently determined that the M-current is encoded by the KCNQ2 and KCNQ3 genes...
- ELECTRIC STUDIES OF EXCITATION, SECRETION & CONTRACTIONBertil Hille; Fiscal Year: 2007..What are the Ca 2+ buffering and flux properties of these organelles? Our work in these cells concerns processes whose failure leads to disease and whose modulation offers new therapies. ..
- Design & Synthesis of Novel CNS-Active Oxytocin and Vasopressin Receptor LigandsEdward Roberts; Fiscal Year: 2010....
- Mechanism and functional role of AKAP79/150 in M current control and excitabilityMark S Shapiro; Fiscal Year: 2010..The elucidation of the mechanisms and functional role of AKAP79/150 in M-channel activity will shed light on how the nervous system functions in health and disease. ..
- Molecular Biology of Calcuim Channel Gamma SubunitsDaniel Burgess; Fiscal Year: 2006....
- MGE Progenitor Cell Grafts and EpilepsySCOTT BARABAN; Fiscal Year: 2008..abstract_text> ..
- Seizure resistance in zebrafishSCOTT BARABAN; Fiscal Year: 2009..The results promise to provide new information about the genetics of seizure resistance and may lead to the design of novel anticonvulsant treatments designed to prevent epilepsy. ..
- SIGNALING BY VASOPRESSIN--ARTERIAL SMOOTH MUSCLE CELLSKENNETH BYRON; Fiscal Year: 2002..Finally, the effects of AVP and other hormones on [Ca2+]i and membrane currents will be examined in freshly isolated smooth muscle cells from rat mesenteric arteries. ..
- KCNQ channel opener efficacy for neonatal seizuresEdward Cooper; Fiscal Year: 2007..Such in vivo preclinical experiments are an essential next step toward our overall goal toward introduction of more effective treatments for neonatal seizures in humans. [unreadable] [unreadable] [unreadable]..
- Calcium entry and vascular smooth muscle excitationKENNETH BYRON; Fiscal Year: 2006..abstract_text> ..
- Genetics of Seizure Resistance: A Mutagenesis StrategySCOTT BARABAN; Fiscal Year: 2004..The results of this unique collaboration promise to provide new insights into the genetic factors that influence epilepsy, and will, perhaps, lead to a cure for this devastating neurological disorder. ..
- Proteomic Dissection of M-channel PhosphorylationEdward Cooper; Fiscal Year: 2003....
- PHARMACOGENOMIC STUDY OF ANTICONVULSANT THERAPYTHOMAS FERRARO; Fiscal Year: 2003....