(Q48612999)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24318194%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy (English)

1 reference

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2 March 2020

13

1 reference

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2 March 2020

Dorien Schepers

3

1 reference

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2 March 2020

Elena Ilina

4

1 reference

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2 March 2020

Simone Mandelstam

9

1 reference

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2 March 2020

Arvid Suls

10

1 reference

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2 March 2020

author name string

Gökce Orhan

1

1 reference

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2 March 2020

Merle Bock

2

1 reference

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2 March 2020

Stephanie Nadine Reichel

5

1 reference

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2 March 2020

Heidi Löffler

6

1 reference

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2 March 2020

Nicole Jezutkovic

7

1 reference

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2 March 2020

Timm Danker

11

1 reference

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2 March 2020

Elke Guenther

12

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2 March 2020

Peter De Jonghe

14

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2 March 2020

Holger Lerche

15

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2 March 2020

Snezana Maljevic

16

1 reference

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2 March 2020

Sarah Weckhuysen

8

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2 March 2020

publication date

18 March 2014

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2 March 2020

1 reference

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2 March 2020

volume

75

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2 March 2020

issue

3

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2 March 2020

page(s)

382-394

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24318194%20AND%20SRC:MED&resulttype=core&format=json

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

2 March 2020

cites work

1 reference

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

21 January 2018

1 reference

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

21 January 2018

1 reference

Nervous system KV7 disorders: breakdown of a subthreshold brake

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Benign familial neonatal convulsions: always benign?

21 January 2018

1 reference

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

Pathways modulating neural KCNQ/M (Kv7) potassium channels

21 January 2018

1 reference

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits

21 January 2018

1 reference

21 January 2018

1 reference

Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

21 January 2018

1 reference

Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

21 January 2018

1 reference

Retigabine for partial onset seizures.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Regulation of neural KCNQ channels: signalling pathways, structural motifs and functional implications

21 January 2018

1 reference

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

21 January 2018

1 reference

Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The C-terminus of Kv7 channels: a multifunctional module.

21 January 2018

1 reference

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

21 January 2018

1 reference

Pathophysiology of KCNQ Channels: Neonatal Epilepsy and Progressive Deafness

21 January 2018

1 reference