A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
about
Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporterCloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structureMolecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversityCloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusionFunctional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsyMalic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneityA carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domainsMyokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channelDiscovery, Synthesis, and Structure–Activity Relationship of a Series of N -Aryl-bicyclo[2.2.1]heptane-2-carboxamides: Characterization of ML213 as a Novel KCNQ2 and KCNQ4 Potassium Channel OpenerInhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptorsColocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsyInactivation as a new regulatory mechanism for neuronal Kv7 channelsKCNQ potassium channels in sensory system and neural circuitsGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and PitfallsMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsDriving with no brakes: molecular pathophysiology of Kv7 potassium channelsEfhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potentialObtaining genetic testing in pediatric epilepsyA reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsionsKCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currentsA locus for febrile seizures (FEB3) maps to chromosome 2q23-24Ion channels and epilepsyRegulation and physiological roles of serum- and glucocorticoid-induced protein kinase isoformsSevere myoclonic epilepsy of infancy: extended spectrum of GEFS+?A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsFunctional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytesMechanisms of Action of Antiseizure Drugs and the Ketogenic DietThe KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3Differential tetraethylammonium sensitivity of KCNQ1-4 potassium channelsVariable K(+) channel subunit dysfunction in inherited mutations of KCNA1From pan-reactive KV7 channel opener to subtype selective opener/inhibitor by addition of a methyl groupMolecular and functional characterization of ERG, KCNQ, and KCNE subtypes in rat stomach smooth muscle
P2860
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P2860
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
description
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1998
@ast
im Januar 1998 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1998/01/01)
@sk
vědecký článek publikovaný v roce 1998
@cs
wetenschappelijk artikel (gepubliceerd op 1998/01/01)
@nl
наукова стаття, опублікована в січні 1998
@uk
name
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@ast
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@en
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@nl
type
label
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@ast
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@en
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@nl
prefLabel
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@ast
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@en
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@nl
P2093
P3181
P356
P1433
P1476
A pore mutation in a novel KQT ...... an idiopathic epilepsy family
@en
P2093
B. E. Reus
M. Leppert
N. A. Singh
R. J. Leach
S. G. Ryan
T. B. Lewis
P2860
P2888
P3181
P356
10.1038/NG0198-53
P407
P577
1998-01-01T00:00:00Z