(Q24626279)

English

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

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11371648%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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 (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11371648%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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corrigendum / erratum

Correction: 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

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8

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7 November 2019

Shinichi Hirose

15

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7 November 2019

Kazuhiro Yamakawa

16

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7 November 2019

author name string

T Sugawara

1

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7 November 2019

Y Tsurubuchi

2

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7 November 2019

K L Agarwala

3

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7 November 2019

M Ito

4

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7 November 2019

G Fukuma

5

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7 November 2019

E Mazaki-Miyazaki

6

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7 November 2019

H Nagafuji

7

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7 November 2019

K Imoto

9

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7 November 2019

K Wada

10

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7 November 2019

A Mitsudome

11

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7 November 2019

S Kaneko

12

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7 November 2019

M Montal

13

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7 November 2019

K Nagata

14

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7 November 2019

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1 May 2001

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7 November 2019

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

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7 November 2019

98

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7 November 2019

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11371648%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

6384-6389

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11371648%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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=33477

7 April 2017

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 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=33477

7 April 2017

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 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=33477

7 April 2017

Nomenclature of voltage-gated sodium channels

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

https://api.crossref.org/works/10.1073%2FPNAS.111065098

21 January 2018

From ionic currents to molecular mechanisms: the structure and function of 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=33477

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

Evolution and diversity of mammalian sodium channel genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

7 April 2017

Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Neuroreceptors and ion channels as the basis for drug action: past, present, and future.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Voltage-gated ion channels and hereditary disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Molecular mechanism for an inherited cardiac arrhythmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Genetic considerations in childhood epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

27 September 2017

Amino acid residues required for fast Na(+)-channel inactivation: charge neutralizations and deletions in the III-IV linker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

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=33477

30 May 2018

A critical role for the S4-S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

30 May 2018

Selective block of tetramethrin-modified sodium channels by (+/-)-alpha-tocopherol (vitamin E).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

30 May 2018

The adult rat brain beta 1 subunit modifies activation and inactivation gating of multiple sodium channel alpha subunits.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

30 May 2018

Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.111065098

21 January 2018

Toxins that modulate the sodium channel gating mechanism.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.111065098

21 January 2018

Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

28 November 2018

Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=33477

28 November 2018

Structural parts involved in activation and inactivation of the sodium channel

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.111065098

21 January 2018

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

1 reference

https://pubmed.ncbi.nlm.nih.gov/11371648

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/11371648

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11371648

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.111065098

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11371648%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

2001PNAS...98.6384S

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Europe PubMed Central

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7 November 2019

PubMed publication ID

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Europe PubMed Central

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7 November 2019

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