(Q28251258)

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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

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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 (English)

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Pierre Szepetowski

9

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7

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object named as

Patrice Roll

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ORCID Public Data File 2021

author name string

Sandrine Pereira

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Jitka Krizova

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Pierre Genton

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Milan Brazdil

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Robert Kuba

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Ivan Rektor

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publication date

April 2004

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45

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4

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384-90

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

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https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

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A potassium channel mutation in neonatal human epilepsy

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

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

1 reference

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21 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

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Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

Sodium-channel defects in benign familial neonatal-infantile seizures

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

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AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists

1 reference

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21 April 2017

The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2004.47703.X

21 April 2017

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.47703.X

21 January 2018

KCNQ potassium channels: physiology, pathophysiology, and pharmacology

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https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.47703.X

21 January 2018

PIP(2) activates KCNQ channels, and its hydrolysis underlies receptor-mediated inhibition of M currents

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.47703.X

21 January 2018

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

1 reference

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21 January 2018

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

1 reference

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21 January 2018

Identifiers

10.1111/J.0013-9580.2004.47703.X

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