Property Summary

NCBI Gene PubMed Count 115
PubMed Score 412.93
PubTator Score 255.79

Knowledge Summary

Patent (27,028)

TINX Plot

  Disease (9)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Benign neonatal seizures 4 0.0 5.0
Disease Target Count Z-score Confidence
Epilepsy 346 6.811 3.4
Intellectual disability 573 4.097 2.0

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 2.900 3.4e-06
astrocytoma -2.100 5.3e-16
posterior fossa group A ependymoma -5.000 1.3e-19
oligodendroglioma -1.800 3.9e-11
glioblastoma -3.700 3.7e-05
group 3 medulloblastoma -2.900 1.9e-03
atypical teratoid / rhabdoid tumor -5.100 2.2e-09
medulloblastoma, large-cell -3.100 6.2e-04
primitive neuroectodermal tumor -1.600 2.8e-04
adult high grade glioma -3.100 1.4e-05
pilocytic astrocytoma 2.200 8.1e-10
subependymal giant cell astrocytoma -3.562 4.1e-02
Pick disease -1.500 4.1e-02

Gene RIF (83)

PMID Text
26627826 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.
26148514 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.
26007637 all the patients carrying the p.A294V mutation of KCNQ2 presented the clinical and EEG characteristics of early onset epileptic encephalopathy
25998125 Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG.
25959266 There is a variable clinical expression in infantile epilepsy patients with mosaicism for KCNQ2 mutations.
25880994 The results of thus study suggested that the type of KCNQ2 mutation might influence Antiepileptic drug response epilepsy as well as developmental outcome.
25818041 Epileptic encephalopathy related to mutations in the KCNQ2 genes.
25740509 the present results suggest that gain-of-function mutations in Kv7.2/3 currents may cause human epilepsy with a severe clinical course
25385787 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.
25052858 This study demonistrated that KCNQ2 mutation association with epilepsy.
25046240 A novel and rare mutation was identified in KCNQ2 and was likely responsible for the benign seizures.
25041603 Kcnq2 protein and mRNA expression and DNA methylation status did not differ significantly between bipolar disorder patients and controls.
24843134 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.
24687876 The results of this study suggested that the loss of Kv7.2 activity increases the excitability of primary sensory neurons.
24599470 Kv7.2/7.3 channels increase action potential amplitude in neocortical myelinated axons.
24489773 The molecular events underlying the association between CaM and Kv7.2 and their regulation by Ca(2+), was examined.
24375629 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.
24371303 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.
24318194 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
24107868 KCNQ2 mutations cause approximately 13% of unexplained neonatal epileptic encephalopathy. Patients present with a wide spectrum of severity.
23692823 This study confirms that KCNQ2 is frequently mutated de novo in neonatal onset epileptic encephalopathy.
23621294 This study demonistrated that early onset epileptic encephalopathies caused by KCNQ2 mutation.
23440208 Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
23360469 Occurrence of afebrile seizures during follow-up is associated with KCNQ2 mutations and may represent a predictive factor.
23290024 This study demonistrated that a KCNQ2 mutation in an Emirati family with benign familial neonatal seizures type 1.
23209695 the single KCNQ channel in Drosophila (dKCNQ) has similar electrophysiological properties to neuronal KCNQ2/3
23203804 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.
23065794 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.
23002961 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.
22884718 We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified.
22447848 This study demonistrated that benign neonatal sleep myoclonus can show autosomal dominant inheritance but not allelic to KCNQ2.
22334706 the Kv7.2-Kv7.3 heteromer assembles as a tetramer with a predominantly 2:2 subunit stoichiometry and with a random subunit arrangement.
22275249 KCNQ2 mutations are found in a substantial proportion of patients with neonatal epileptic encephalopathy with a potentially recognizable electroclinical and radiological phenotype.
22169383 KCNQ2 mutations can present with a neonatal onset multifocal myoclonus-like dyskinesia
22084859 XRCC1 107 and 194, hOGG1, KCNQ2, and AT1R are not associated with endometriosis susceptibility.
21980481 constitutive tethering of calmodulin is not required for Kv7 channel function
21976501 The existence of constitutive interactions between the N and C termini in homomeric KCNQ2 and KCNQ3 channels has been determined in living cells by means of optical, biochemical, electrophysiological, and molecular biology analyses.
21937445 Dataa identified a novel degradation signal derived from distal C-terminal frameshift mutations, which impairs channel function, leads to M-current dysfunction, which causes epilepsy.
21913284 The results represent a first example of temperature and pharmacological rescue of K(V) 7 mutation and suggest a folding and trafficking deficiency as the cause of reduced current amplitudes.
21723881 Thallium influx assays profile novel KCNQ2/3 channel currents with respect to selectivity across KCNQ2/3 subtypes.
21156207 Transgenic mice carrying the voltage-gated ion channel KCNQ2-V182M mutation exhibit increased susceptibility to induced seizures.
20119593 KCNQ2 mutation in a family with benign familial neonatal convulsions.
19818940 a novel KCNQ2 mutation c.63-66delGGTG (p.K21fsX40), causing a framework shift and early chain termination, was identified in family members affectd with benign familial neonatal seizures
19559753 functionally characterized three Benign Familial Neonatal Convulsions mutations that all show very similar electrophysiological aberrations, although these are due to different biochemical defects
19494108 CaM bound to KCNQ2 acts as a Ca2+ sensor, conferring Ca2+ dependence to the trafficking of the channel to the plasma membrane and fully explaining the requirement of CaM binding for KCNQ2 function.
19464834 mutations in the SCN1A gene are differentially involved in the pathogenesis of and sequence variations of the KCNQ2 and KCNQ3 genes may contribute to the etiology of rare and common idiopathic epilepsy syndromes [review]
18625963 Sequence variations of the KCNQ3 (and KCNQ2)genes may contribute to the etiology of common idiopathic epilepsy syndromes.
18625963 Observational study of gene-disease association. (HuGE Navigator)
18545987 Schizophrenia-linked mutation of the kinase results in reduced KCNQ channel function and thereby might explain the loss of dopaminergic control in schizophrenic patients.
18448631 the inhibition of KCNQ/M currents by histamine in HEK293 cells and SCG neurons is due to the consumption of membrane PIP(2) by PLC.
18353052 Two siblings with BFNC had a novel heterozygous missense mutation, p.R213W, in KCNQ2
18246739 This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two patients in a Turkish family with benign familial neonatal convulsions.
18166285 high expression of KCNQ2 was identified in the hippocampus, temporal cortex, cerebellar cortex and medulla oblongata in fetal life, but such expression decreased after birth.
18089837 ICA-27243 is a novel and selective KCNQ2 potassium channel activator.
18006581 A novel BFNC-causing mutation (E119G) in the S1-S2 region of KV7.2 (KCNQ2) is identified.
17993630 trafficking of KCNQ2(potassium voltage-gated channel, KQT-like subfamily, member 2 protein) potassium channels by calmodulin.
17872363 mutations in KCNQ2 can cause idiopathic peripheral nerve hyperexcitability (PNH) alone; both K(V)7.2 mutants produce PNH by changing voltage-dependent activation with a dominant negative effect on the wild type channel
17724161 Intracellular Mg/polyamines inhibit KCNQ2 by electrostatic binding to the negative charges of PIP(2), competitively reducing the amount of free PIP(2) available for interaction with channels.
17675531 3 deletions & 1 duplication were found in benign familial neonatal seizure cases. Pathogenic intragenic submicroscopic deletions or duplications segregate with the phenotype.
17475800 Gating changes caused by mutations of the noncharged residues at the N-terminal end of KCNQ2 may decrease the slow neuronal potassium M-currents, thus causing neuronal hyperexcitability, ultimately leading to neonatal convulsions.
17382933 These data suggest a crucial role of coiled-coil motifs in tetrameric KCNQ channel assembly.
17044971 KCNQ2 mutation exists in patients with benign familial infantile convulsions.
16990515 depletion of phosphatidylinositol 4,5-bisphosphate suffices to suppress KCNQ current fully, and other second messengers are not needed
16721610 the diacylglycerol produced during activation of phospholipase c, any activation of protein kinase C that it may stimulate, and downstream products of its metabolism are not essential players in the acute muscarinic modulation of KCNQ2/3 channels
16691402 A novel KCNQ2 missense mutation, G271V, in 17 members of a Chinese family with the benign familial infantile seizure phenotype .
16464983 Genetic interaction between the combined mild alleles of monogenic epilepsy genes KCNQ2 and SCN2A1 results in severe epilepsy in transgenic mice.
16319223 Mutagenesis and electrophysiological studies of the second site, located in the S4-S5 intracellular loop of all KCNQ subunits, reveal a mechanism of channel inhibition
16260777 mutation-induced reduced stability of KCNQ2 subunits may cause epilepsy in neonates
16235065 the KCNQ2 mutation is responsible for the benign familial neonatal convulsion phenotype, possibly because of haplo-insufficiency, whereas the KCNQ3 variant is functionally silent
15596769 2 heterozygous deletion mutations (c.232delC in EP 70 and c.314_316delCCT in EP 65) & a heterozygous splice site mutation (c.1118 + 1G>A in EP 69)were identified in patients with benign neonatal convulsions.
15483133 After KCNQ2/3 heteromerization, current levels can augment as much as 10-fold, and we have discovered that there are three processes underlying this potentiation.
15304482 Src associates with KCNQ2-5 subunits but phosphorylates only KCNQ3-5.
15249611 The KCNQ2 K526N mutation may affect M-channel function by disrupting the complex biochemical signaling involving KCNQ2 C-terminus.
15178210 Frameshift mutation in a Chinese family causes benign familial neonatal convulsions.
15030501 A novel 2-base pair deletion within the coding sequence of the KCNQ2 gene is detected in patients from a large and heterogeneous family with benign neonatal familial convulsions (BNFCs) or non-BNFC seizures.
14985406 defect in calmodulin binding to mutant KCNQ2 may be one of the pathogenic mechanisms associated with benign familial neonatal seizures
12847176 A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with benign familial neonatal convulsions
12832524 Coexpressed KCNQ2 plus KCNQ3 cDNAs generate channels with 1:1 (KCNQ2:KCNQ3) stoichiometry in CHO cells and that native M channels in SCG neurons adopt the same conformation during development
12640002 specific parts of the C-terminus enable the interaction between KCNQ2 and KCNQ3 channels and that different parts of the KCNQ3 C-terminus are important for regulating current amplitude
12524525 A chimaera (KCNQ1-sid(Q3)) carrying the si domain of KCNQ3 within the KCNQ1 backbone interacted with KCNQ2. as shown by enhancement of KCNQ2 currents.
12458027 Observational study of gene-disease association. (HuGE Navigator)
12395102 We investigated whether KCNQ2 gene polymorphisms can be used as markers of susceptibility to febrile convulsions. We found that the KCNQ2 gene might not be a useful marker for prediction of the susceptibility of febrile convulsions.
11726784 Benign familial neonatal convulsions (BFNC) have been previously found to be associated with mutations within the coding region of KCNQ2

AA Sequence

MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKR      1 - 70
NAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVE     71 - 140
YFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIR    141 - 210
MDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGY    211 - 280
GDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATN    281 - 350
LSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP    351 - 420
CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRS    421 - 490
RARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLR    491 - 560
PYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQV    561 - 630
LSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKN    631 - 700
FSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQED    701 - 770
TPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD    771 - 840
TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK                                          841 - 872
//

Text Mined References (114)

PMID Year Title
26627826 2016 The Sensorless Pore Module of Voltage-gated K+ Channel Family 7 Embodies the Target Site for the Anticonvulsant Retigabine.
26148514 2015 An unconventional calmodulin-anchoring site within the AB module of Kv7.2 channels.
26007637 2015 A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
25998125 2015 An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels.
25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
25385787 2014 Capturing distinct KCNQ2 channel resting states by metal ion bridges in the voltage-sensor domain.
25052858 2014 The variable phenotypes of KCNQ-related epilepsy.
25046240 2015 Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
25041603 2015 DNA methylation and expression of KCNQ3 in bipolar disorder.
24843134 2014 Golgi and plasma membrane pools of PI(4)P contribute to plasma membrane PI(4,5)P2 and maintenance of KCNQ2/3 ion channel current.
24687876 2014 Kv7.2 regulates the function of peripheral sensory neurons.
24599470 2014 Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons.
24489773 2014 Pivoting between calmodulin lobes triggered by calcium in the Kv7.2/calmodulin complex.
24375629 2014 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.
24371303 2014 KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
23440208 2013 Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
23290024 2013 Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.
23209695 2012 KCNQ channels show conserved ethanol block and function in ethanol behaviour.
23203804 2013 Cooperativity between calmodulin-binding sites in Kv7.2 channels.
23065794 2012 In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission.
23002961 2013 Development and validation of a medium-throughput electrophysiological assay for KCNQ2/3 channel openers using QPatch HT.
22884718 2012 KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.
22447848 2012 Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.
22334706 2012 The Kv7.2/Kv7.3 heterotetramer assembles with a random subunit arrangement.
22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
22084859 2012 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.
21980481 2011 Kv7 channels can function without constitutive calmodulin tethering.
21976501 2011 Regulation of neuronal M-channel gating in an isoform-specific manner: functional interplay between calmodulin and syntaxin 1A.
21937445 2011 A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.
21913284 2011 Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.
21723881 2011 KCNQ2/3 openers show differential selectivity and site of action across multiple KCNQ channels.
21156207 2011 Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
20119593 2010 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
19818940 2009 Novel mutation in KCNQ2 causing benign familial neonatal seizures.
19559753 2009 Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
19494108 2009 Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum.
19464834 2009 Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
18625963 2008 KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
18545987 2008 A schizophrenia-linked mutation in PIP5K2A fails to activate neuronal M channels.
18448631 2008 Phosphatidylinositol 4,5-bisphosphate hydrolysis mediates histamine-induced KCNQ/M current inhibition.
18353052 2008 Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
18246739 A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).
18166285 2008 Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions.
18089837 2008 N-(6-chloro-pyridin-3-yl)-3,4-difluoro-benzamide (ICA-27243): a novel, selective KCNQ2/Q3 potassium channel activator.
18006581 2008 Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.
17993630 2008 Calmodulin regulates the trafficking of KCNQ2 potassium channels.
17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
17724161 2007 Electrostatic interaction of internal Mg2+ with membrane PIP2 Seen with KCNQ K+ channels.
17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
17475800 2007 Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
17382933 2007 Self-assembly of the isolated KCNQ2 subunit interaction domain.
17044971 2006 [A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].
16990515 2006 Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels.
16721610 2006 Does diacylglycerol regulate KCNQ channels?
16691402 2006 Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.
16525039 2006 A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon.
16464983 2006 Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.
16382104 2005 International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.
16319223 2005 Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels.
16260777 2006 Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.
16235065 2005 Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
15596769 2004 De novo KCNQ2 mutations in patients with benign neonatal seizures.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15483133 2004 Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiation.
15304482 2004 Dual phosphorylations underlie modulation of unitary KCNQ K(+) channels by Src tyrosine kinase.
15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
15178210 2004 A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.
15030501 2004 Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.
14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
14759258 2004 An unappreciated role for RNA surveillance.
14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12890507 2003 Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation.
12847176 2003 A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
12832524 2003 Stoichiometry of expressed KCNQ2/KCNQ3 potassium channels and subunit composition of native ganglionic M channels deduced from block by tetraethylammonium.
12754513 2003 AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.
12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
12640002 2003 C-terminal interaction of KCNQ2 and KCNQ3 K+ channels.
12524525 2003 A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12458027 2002 Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.
12395102 2002 The voltage-gated potassium channel KCNQ2 in Taiwanese children with febrile convulsions.
12223552 2002 Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels.
12032157 2002 The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
11175290 2000 Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
11160379 2001 Differential expression of kcnq2 splice variants: implications to m current function during neuronal development.
11034315 2000 M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit.
10953053 2000 Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels.
10908292 2000 Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine.
10788442 2000 Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.
10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.
10713961 2000 Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.
10713399 2000 The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits.
10684873 2000 Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current.
10479678 1999 Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell.
10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
9872318 1998 Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
9836639 1998 KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.
9827540 1998 The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3.
9677360 1998 Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy.
9430594 1998 A potassium channel mutation in neonatal human epilepsy.
9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
9039501 1996 Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles.