KV7 channelopathies (Q37733383)

22 August 2017

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title

KV7 channelopathies (English)

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22 August 2017

Snezana Maljevic

1

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22 August 2017

Thomas V Wuttke

series ordinal

2

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22 August 2017

Guiscard Seebohm

series ordinal

3

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22 August 2017

Holger Lerche

series ordinal

4

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22 August 2017

18 April 2010

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22 August 2017

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22 August 2017

460

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22 August 2017

2

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22 August 2017

277-288

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https://scigraph.springernature.com/pub.10.1007/s00424-010-0831-3

22 August 2017

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cites work

Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0831-3

The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0831-3

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0831-3

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0831-3

Increasing I(Ks) corrects abnormal repolarization in rabbit models of acquired LQT2 and ventricular hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0831-3

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

21 January 2018

1 reference

12 December 2020

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions

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12 December 2020

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

1 reference

12 December 2020

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

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12 December 2020

Effects of the anticonvulsant retigabine on cultured cortical neurons: changes in electroresponsive properties and synaptic transmission

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12 December 2020

Nervous system KV7 disorders: breakdown of a subthreshold brake

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12 December 2020

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

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12 December 2020

Structure of KCNE1 and Implications for How It Modulates the KCNQ1 Potassium Channel † ‡

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12 December 2020

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

1 reference

12 December 2020

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

1 reference

12 December 2020

Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

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12 December 2020

Stress and sudden death. The case of the long QT syndrome

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12 December 2020

Functional effects of a KCNQ1 mutation associated with the long QT syndrome.

1 reference

12 December 2020

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

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12 December 2020

Differential expression of kcnq2 splice variants: implications to m current function during neuronal development

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12 December 2020

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

1 reference

12 December 2020

A novel benzodiazepine that activates cardiac slow delayed rectifier K+ currents

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12 December 2020

The new voltage gated potassium channel KCNQ5 and neonatal convulsions

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12 December 2020

A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly

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12 December 2020

Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity

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12 December 2020

Counting membrane-embedded KCNE beta-subunits in functioning K+ channel complexes

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12 December 2020

In vitro molecular interactions and distribution of KCNE family with KCNQ1 in the human heart

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12 December 2020

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

1 reference

12 December 2020

Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.

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12 December 2020

Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.

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12 December 2020

Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.

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12 December 2020

Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study

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12 December 2020

Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes

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12 December 2020

Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiation.

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12 December 2020

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

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12 December 2020

KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

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12 December 2020

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions

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12 December 2020

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

1 reference

12 December 2020

Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.

1 reference

12 December 2020

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

1 reference

12 December 2020

Phosphatidylinositol-4,5-bisphosphate, PIP2, controls KCNQ1/KCNE1 voltage-gated potassium channels: a functional homology between voltage-gated and inward rectifier K+ channels.

1 reference

12 December 2020

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

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12 December 2020

Neuronal KCNQ potassium channels: physiology and role in disease.

1 reference

12 December 2020

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

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12 December 2020

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

1 reference

12 December 2020

Basolateral localisation of KCNQ1 potassium channels in MDCK cells: molecular identification of an N-terminal targeting motif

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12 December 2020

Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

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12 December 2020

Low expression of Kv7/M channels facilitates intrinsic and network bursting in the developing rat hippocampus

1 reference

12 December 2020

The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate

1 reference

12 December 2020

Meclofenamic acid and diclofenac, novel templates of KCNQ2/Q3 potassium channel openers, depress cortical neuron activity and exhibit anticonvulsant properties

1 reference

12 December 2020

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

1 reference

12 December 2020

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions

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12 December 2020

Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum.

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12 December 2020

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

1 reference

12 December 2020

Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy

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12 December 2020

MinK-KvLQT1 fusion proteins, evidence for multiple stoichiometries of the assembled IsK channel

1 reference

12 December 2020

Chromanol 293B binding in KCNQ1 (Kv7.1) channels involves electrostatic interactions with a potassium ion in the selectivity filter

1 reference

12 December 2020

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients

1 reference

12 December 2020

Identification of specific pore residues mediating KCNQ1 inactivation. A novel mechanism for long QT syndrome

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12 December 2020

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels.

1 reference

12 December 2020

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

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12 December 2020

Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures

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12 December 2020

The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.

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12 December 2020

Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness

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12 December 2020

KCNQ1/KCNE1 assembly, co-translation not required

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12 December 2020

Phenotypic variants of autoimmune peripheral nerve hyperexcitability

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12 December 2020

The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3

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12 December 2020

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

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12 December 2020

Age-dependent modulation of hippocampal excitability by KCNQ-channels

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12 December 2020

Altered potassium balance and aldosterone secretion in a mouse model of human congenital long QT syndrome

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12 December 2020

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

1 reference

12 December 2020

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

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12 December 2020

The role of abnormal trafficking of KCNE1 in long QT syndrome 5.

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12 December 2020

Novel anticonvulsant drugs targeting voltage-dependent ion channels

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12 December 2020

Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone

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12 December 2020

Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks).

1 reference

12 December 2020

Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.

1 reference

12 December 2020

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

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12 December 2020

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

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12 December 2020

SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

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12 December 2020

The KCNQ1 potassium channel: from gene to physiological function

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12 December 2020

The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits

1 reference

12 December 2020

Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

1 reference

12 December 2020

Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel

1 reference

12 December 2020

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

1 reference

12 December 2020

Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.

1 reference

12 December 2020

The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.

1 reference

12 December 2020

Role of KCNE1-dependent K+ fluxes in mouse proximal tubule

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12 December 2020

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

1 reference

12 December 2020

Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions.

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12 December 2020

Neonatal seizures with tonic clonic sequences and poor developmental outcome

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12 December 2020

A single transmembrane site in the KCNE-encoded proteins controls the specificity of KvLQT1 channel gating

1 reference

12 December 2020

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

1 reference

12 December 2020

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

1 reference

12 December 2020

An LQT mutant minK alters KvLQT1 trafficking

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12 December 2020

KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents

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12 December 2020

Benign familial neonatal convulsions: always benign?

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12 December 2020

DFNA2/KCNQ4 and its manifestations.

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12 December 2020

Kv7.1 in atrial fibrillation

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12 December 2020

Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

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12 December 2020

A potassium channel mutation in neonatal human epilepsy

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12 December 2020

Activation of Kv7 (KCNQ) voltage-gated potassium channels by synthetic compounds

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12 December 2020

Regulation of endocytic recycling of KCNQ1/KCNE1 potassium channels

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12 December 2020

LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1.

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12 December 2020

Effects of I(Ks) channel inhibitors in insulin-secreting INS-1 cells

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12 December 2020

Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels

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12 December 2020

A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

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12 December 2020

Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

1 reference

12 December 2020

Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy

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12 December 2020

Blockers of the slowly delayed rectifier potassium IKs channel: potential antiarrhythmic agents

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12 December 2020

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

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12 December 2020

KCNQ2 is a nodal K+ channel.

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12 December 2020

Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels.

1 reference

12 December 2020

Molecular impact of MinK on the enantiospecific block of I(Ks) by chromanols

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12 December 2020

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels

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12 December 2020

Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis

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12 December 2020

10.1007/S00424-010-0831-3

Identifiers

DOI

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22 August 2017

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