A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity. (Q51738464)

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31 March 2020

title

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity (English)

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31 March 2020

7

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31 March 2020

Jérôme Devaux

1

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31 March 2020

Laurent Aniksztejn

9

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31 March 2020

author name string

Affef Abidi

2

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31 March 2020

Agathe Roubertie

3

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31 March 2020

Florence Molinari

4

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31 March 2020

Hélène Becq

5

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31 March 2020

Caroline Lacoste

6

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31 March 2020

Mathieu Milh

8

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31 March 2020

publication date

31 March 2016

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31 March 2020

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31 March 2020

volume

57

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31 March 2020

issue

5

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31 March 2020

page(s)

e87-93

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Potassium channel genes and benign familial neonatal epilepsy

31 March 2020

cites work

1 reference

Neuronal KCNQ potassium channels: physiology and role in disease.

21 January 2018

1 reference

KCNQ2 is a nodal K+ channel.

21 January 2018

1 reference

Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons

21 January 2018

1 reference

Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons.

21 January 2018

1 reference

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

21 January 2018

1 reference

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

21 January 2018

1 reference

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

21 January 2018

1 reference

21 January 2018

1 reference

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

21 January 2018

1 reference

Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions.

21 January 2018

1 reference

Early patterns of electrical activity in the developing cerebral cortex of humans and rodents

21 January 2018

1 reference

Early γ oscillations synchronize developing thalamus and cortex

21 January 2018

1 reference

Treatment during a vulnerable developmental period rescues a genetic epilepsy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.13366

1 reference

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release_x77rxla6mfaqrn54nithgcpdam

31 March 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/x77rxla6mfaqrn54nithgcpdam

mapped directly with Wikidata item

24 November 2022

based on heuristic

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