A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome (Q33504524)

27 July 2017

title

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome (English)

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27 July 2017

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Nanda A Singh

1

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27 July 2017

Chris Pappas

2

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27 July 2017

E Jill Dahle

3

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27 July 2017

Lieve R F Claes

4

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27 July 2017

Timothy H Pruess

5

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27 July 2017

Peter De Jonghe

6

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27 July 2017

Joel Thompson

7

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27 July 2017

Missy Dixon

8

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27 July 2017

Christina Gurnett

9

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27 July 2017

Andy Peiffer

10

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27 July 2017

H Steve White

11

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27 July 2017

Francis Filloux

12

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27 July 2017

Mark F Leppert

13

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27 July 2017

publication date

18 September 2009

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27 July 2017

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27 July 2017

volume

5

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27 July 2017

issue

9

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27 July 2017

page(s)

e1000649

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Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

18 September 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

21 June 2018

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Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

21 June 2018

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When adaptive processes go awry: gain-of-function in SCN9A.

21 June 2018

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Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences

21 June 2018

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Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

21 June 2018

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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

21 June 2018

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Atypical patterns of inheritance

21 June 2018

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21 June 2018

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An SCN9A channelopathy causes congenital inability to experience pain

21 June 2018

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Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.

21 June 2018

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SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

21 June 2018

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A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

21 June 2018

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Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

21 June 2018

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SCN1A mutations and epilepsy

21 June 2018

1 reference

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Molecular diversity of voltage-gated sodium channel alpha subunits expressed in neuronal and non-neuronal excitable cells

21 June 2018

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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

21 June 2018

1 reference

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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

21 June 2018

1 reference

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The genetics of human epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

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

21 June 2018

1 reference

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From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Targeting genes for self-excision in the germ line

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Derivation of completely cell culture-derived mice from early-passage embryonic stem cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Modification of seizure activity by electrical stimulation. II. Motor seizure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

The spectrum of SCN1A-related infantile epileptic encephalopathies

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Mouse models for the Wolf-Hirschhorn deletion syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Genetics of the febrile seizure susceptibility trait

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Validation of corneally kindled mice: a sensitive screening model for partial epilepsy in man.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2730533

Evidence favoring genetic heterogeneity for febrile convulsions

31 October 2018

1 reference

12 December 2020

Seizure phenotypes of a family with missense mutations in SCN2A

1 reference

12 December 2020

Pedigree analysis in families with febrile seizures

1 reference

12 December 2020

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

1 reference

12 December 2020

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000649

Identifiers

DOI

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27 July 2017

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27 July 2017

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