|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
|
25213595 |
2015 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
|
21841462 |
2012 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
|
23187123 |
2012 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
The role of CACNA1S in predisposition to malignant hyperthermia.
|
19825159 |
2009 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
|
19225109 |
2009 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
|
18229654 |
2007 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
|
18162704 |
2007 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
|
17418573 |
2007 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
|
15716625 |
2005 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
|
15726306 |
2005 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.
|
11555352 |
2001 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
[A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree].
|
11808349 |
2001 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis.
|
10639629 |
2000 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.
|
11034874 |
2000 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H.
|
9852570 |
1998 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H)
|
9512357 |
1998 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.
|
9066893 |
1997 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
phenotype |
UNIPROT |
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.
|
9199552 |
1997 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.
|
8605978 |
1996 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
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.
|
7847370 |
1995 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
A calcium channel mutation causing hypokalemic periodic paralysis.
|
7987325 |
1994 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
CausalMutation
|
phenotype |
CLINVAR |
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
|
8004673 |
1994 |
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
SusceptibilityMutation
|
phenotype |
CLINVAR |
|
|
|
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
|
0.600 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|