(Q24563329)

19 October 2023

Thomas H Rhodes

Thomas H

Rhodes

1 reference

19 October 2023

Carlos G Vanoye

series ordinal

author given names

Carlos G

author last names

Vanoye

1 reference

19 October 2023

Dao W Wang

series ordinal

author given names

Dao W

author last names

Wang

1 reference

19 October 2023

Alfred L George

series ordinal

author given names

Alfred L Jr

author last names

George

1 reference

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

19 October 2023

language of work or name

English

0 references

publication date

27 July 2004

0 references

published in

0 references

volume

101

0 references

issue

0 references

page(s)

11147-52

0 references

cites work

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

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

1 reference

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

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)

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

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

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

22 April 2017

1 reference

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

Sodium-channel defects in benign familial neonatal-infantile seizures

24 March 2017

1 reference

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

Molecular basis of an inherited epilepsy

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

24 March 2017

1 reference

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

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

27 September 2017

1 reference

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

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

Molecular basis of charge movement in voltage-gated sodium channels

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

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

30 May 2018

1 reference

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

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

30 May 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0402482101

0 references

ADS bibcode

2004PNAS..10111147R

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Fatcat ID

release_hgocwoyvbffylnxoyzv4qa73cq

0 references

PMC publication ID

503754

0 references