(Q51750711)

English

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

scientific article published on 13 January 2014

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scholarly article

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3 March 2020

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A (English)

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3 March 2020

Maria Virginia Soldovieri

1

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3 March 2020

Francesco Miceli

8

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3 March 2020

Stéphane Auvin

11

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3 March 2020

Paolo Ambrosino

7

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3 March 2020

Bernard Echenne

12

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Bernard Echenne

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3 March 2020

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Nadia Boutry-Kryza

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3 March 2020

Mathieu Milh

3

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3 March 2020

Diane Doummar

4

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3 March 2020

Benedicte Heron

5

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3 March 2020

Emilie Bourel

6

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3 March 2020

Michela De Maria

9

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3 March 2020

Nathalie Dorison

10

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3 March 2020

Julie Oertel

13

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3 March 2020

Audrey Riquet

14

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3 March 2020

Laetitia Lambert

15

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3 March 2020

Marion Gerard

16

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3 March 2020

Anne Roubergue

17

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3 March 2020

Alain Calender

18

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3 March 2020

Cyril Mignot

19

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3 March 2020

Maurizio Taglialatela

20

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3 March 2020

Gaetan Lesca

21

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3 March 2020

publication date

13 January 2014

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3 March 2020

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3 March 2020

35

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3 March 2020

3

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3 March 2020

356-367

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3 March 2020

Ca2+/calmodulin disrupts AKAP79/150 interactions with KCNQ (M-Type) K+ channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Heterogeneity of glutamatergic and GABAergic release machinery in cerebral cortex: analysis of synaptogyrin, vesicle-associated membrane protein, and syntaxin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Regulation of neuronal M-channel gating in an isoform-specific manner: functional interplay between calmodulin and syntaxin 1A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Sequence variation and disease in the wake of the draft human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Gating consequences of charge neutralization of arginine residues in the S4 segment of K(v)7.2, an epilepsy-linked K+ channel subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Ion channel variation causes epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Selective interaction of syntaxin 1A with KCNQ2: possible implications for specific modulation of presynaptic activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Neonatal seizures with tonic clonic sequences and poor developmental outcome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Driving with no brakes: molecular pathophysiology of Kv7 potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Benign familial neonatal convulsions: always benign?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

21 January 2018

Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

7 January 2021

based on heuristic

inferred from DOI database lookup

Calmodulin regulates the trafficking of KCNQ2 potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

7 January 2021

based on heuristic

inferred from DOI database lookup

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

7 January 2021

based on heuristic

inferred from DOI database lookup

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

7 January 2021

based on heuristic

inferred from DOI database lookup

Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22500

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22500

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375629%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

release_jes3l5regbenrjc5tpvd7dnkz4

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https://api.fatcat.wiki/v0/release/jes3l5regbenrjc5tpvd7dnkz4

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375629%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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