|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.
|
29572832 |
2018 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim was to describe a novel phenotype associated with a CACNA1S variant at a site previously linked to hypokalemic periodic paralysis.
|
29193480 |
2018 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four different CACNA1S missense mutations were detected in hypokalemic periodic paralysis and five KCNJ2 missense mutations in Andersen-Tawil syndrome.
|
29606556 |
2018 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.
|
28857175 |
2017 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While dominant CACNA1S mutations were previously linked to malignant hyperthermia susceptibility or hypokalemic periodic paralysis, our findings strengthen the importance of DHPR for perinatal muscle function in human.
|
28012042 |
2017 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
|
26252573 |
2015 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used whole-exome next-generation sequencing to identify a mutation in the calcium channel, voltage-dependent, L type, alpha subunit gene (CACNA1S), R900S, which is a rare mutation associated with hypokalemic periodic paralysis.
|
26433613 |
2015 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
|
25213595 |
2015 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
WES revealed a de novo non-synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis.
|
22901280 |
2013 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sporadic periodic paralysis (SPP), the second leading cause of hypokalemic periodic paralysis (HPP) in Asia, has a presentation similar to that of familial periodic paralysis (FPP) and is caused by gene mutations in the calcium (Ca(2+)) (CACNA1S) and sodium (Na(+)) (SCN4A) channels of skeletal muscle.
|
21841462 |
2012 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
|
21841462 |
2012 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
|
23187123 |
2012 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.
|
21845430 |
2012 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.
|
19822448 |
2010 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
|
19225109 |
2009 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.
|
19118277 |
2009 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.
|
19118277 |
2009 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.
|
19118277 |
2009 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.
|
19118277 |
2009 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
|
19779499 |
2009 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
|
18835861 |
2008 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.
|
18835861 |
2008 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
|
17418573 |
2007 |
|
Hypokalemic periodic paralysis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
|
18229654 |
2007 |