(Q33763782)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

hypokalemic periodic paralysis

19 January 2020

main subject

voltage

0 references

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Stephanie Schorge

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Dimitri Kullmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

3

M G Sweeney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

11

M G Hanna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

E Matthews

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

R Labrum

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

R Sud

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

A Haworth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

M B Davis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

P F Chinnery

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

31 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

1544-1547

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Pathomechanisms in channelopathies of skeletal muscle and brain

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Correlating phenotype and genotype in the periodic paralyses

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

A calcium channel mutation causing hypokalemic periodic paralysis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Gating pore current in an inherited ion channelopathy.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2848101

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19118277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19118277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19118277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/01.WNL.0000342387.65477.46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19118277%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference