(Q28191292)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

0 references

7

1 reference

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22 December 2019

author name string

Christoph Lossin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Thomas H Rhodes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Reshma R Desai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Carlos G Vanoye

4

1 reference

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22 December 2019

Dao Wang

5

1 reference

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22 December 2019

Sanda Carniciu

6

1 reference

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22 December 2019

Alfred L George

8

1 reference

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22 December 2019

language of work or name

English

0 references

publication date

1 December 2003

1 reference

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22 December 2019

published in

Journal of Neuroscience

1 reference

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22 December 2019

volume

23

1 reference

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22 December 2019

page(s)

11289-11295

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

issue

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

22 December 2019

cites work

1 reference

12 December 2020

Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum

1 reference

12 December 2020

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

1 reference

12 December 2020

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

1 reference

12 December 2020

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

1 reference

12 December 2020

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

1 reference

12 December 2020

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

12 December 2020

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

1 reference

12 December 2020

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

1 reference

12 December 2020

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

12 December 2020

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

1 reference

12 December 2020

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

1 reference

12 December 2020

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

1 reference

12 December 2020

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

1 reference

12 December 2020

Identification of epilepsy genes in human and mouse

1 reference

12 December 2020

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).

1 reference

12 December 2020

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

1 reference

12 December 2020

Channelopathies: episodic disorders of the nervous system.

1 reference

12 December 2020

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

1 reference

12 December 2020

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells

1 reference

12 December 2020

Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block

1 reference

12 December 2020

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Molecular basis of an inherited epilepsy

1 reference

12 December 2020

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

1 reference

12 December 2020

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

1 reference

12 December 2020

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

1 reference

12 December 2020

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

1 reference

12 December 2020

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

1 reference

12 December 2020

[The benign myoclonic epilepsy of infancy (author's transl)]

1 reference

12 December 2020

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

1 reference

12 December 2020

A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo

1 reference

12 December 2020

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

1 reference

12 December 2020

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

1 reference

12 December 2020

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

12 December 2020

10.1523/JNEUROSCI.23-36-11289.2003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

22 December 2019

2943182

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14672992%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2943182