(Q45783515)

16 December 2017

title

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family (English)

1 reference

16 December 2017

hypokalemic periodic paralysis

main subject

1 reference

Tie Ke

1

1 reference

16 December 2017

Cladelis Rubio Gomez

2

1 reference

16 December 2017

Heidi Eliana Mateus

3

1 reference

16 December 2017

Juan Andres Castano

4

1 reference

16 December 2017

Qing Kenneth Wang

5

1 reference

16 December 2017

publication date

25 September 2009

1 reference

16 December 2017

Journal of Human Genetics

published in

1 reference

16 December 2017

volume

54

1 reference

16 December 2017

issue

11

1 reference

16 December 2017

page(s)

660-664

1 reference

16 December 2017

https://scigraph.springernature.com/pub.10.1038/jhg.2009.92

exact match

0 references

cites work

Hypokalemic paralyses: a review of the etiologies, pathophysiology, presentation, and therapy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Lack of association of the potassium channel–associated peptide MiRP2-R83H variant with periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

A calcium channel mutation causing hypokalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Correlating phenotype and genotype in the periodic paralyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

7 January 2021

Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.92

7 January 2021

Identifiers

DOI

10.1038/JHG.2009.92

1 reference

16 December 2017

Dimensions Publication ID

0 references

1 reference

16 December 2017