Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy (Q24563329)

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scientific article

Language	Label	Description	Also known as
English	Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy	scientific article

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scholarly article

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy (English)

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myoclonic epilepsy

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based on heuristic

inferred from title

Christoph Lossin

2

object named as

Christoph Lossin

author given names

Christoph

author last names

Lossin

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PubMed publication ID

19 October 2023

author name string

Thomas H Rhodes

1

author given names

Thomas H

author last names

Rhodes

1 reference

PubMed publication ID

19 October 2023

Carlos G Vanoye

3

author given names

Carlos G

author last names

Vanoye

1 reference

PubMed publication ID

19 October 2023

Dao W Wang

4

author given names

Dao W

author last names

Wang

1 reference

PubMed publication ID

19 October 2023

Alfred L George

5

author given names

Alfred L Jr

author last names

George

1 reference

PubMed publication ID

19 October 2023

language of work or name

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publication date

27 July 2004

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Proceedings of the National Academy of Sciences of the United States of America

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101

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30

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11147-52

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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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

Radicals r'aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

https://api.crossref.org/works/10.1073/PNAS.0402482101

22 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

Sodium-channel defects in benign familial neonatal-infantile seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

Molecular basis of an inherited epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

Molecular basis of charge movement in voltage-gated sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

31P NMR study of cerebral metabolism during prolonged seizures in the neonatal dog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

30 May 2018

Panoramic imaging of brain pHi and CBF during penicillin and metrazole induced status epilepticus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=503754

30 May 2018

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402482101

21 January 2018

Effect of arterial blood pressure and serum glucose on brain intracellular pH, cerebral and cortical blood flow during status epilepticus in the white New Zealand rabbit

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402482101

21 January 2018

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402482101

21 January 2018

Modulation of cell death by mouse genotype: differential vulnerability to excitatory amino acid-induced lesions

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402482101

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15263074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.0402482101

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2004PNAS..10111147R

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release_hgocwoyvbffylnxoyzv4qa73cq

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PMC publication ID

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PubMed publication ID

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ResearchGate publication ID

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