|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification in a patient of 1 of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility (MHS).
|
30499100 |
2019 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data provide current estimates of the role of variants in RYR1, CACNA1S, and STAC3 in susceptibility to MH in a predominantly white European population.
|
30236257 |
2018 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene.
|
28259615 |
2017 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
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 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additional pathogenic variants in CACNA1S, either alone or in combination with genes affecting Ca<sup>2+</sup> homeostasis, are likely to be discovered in association to MH as whole exome sequencing becomes more commonplace.
|
28011884 |
2017 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We tested MH-causative variants, variants that had been shown to alter calcium release in cells, and common sequence variants in RYR1 and CACNA1S.
|
27147545 |
2016 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The authors applied a targeted next-generation sequencing approach to identify variants in RYR1 and CACNA1S in a cohort of unrelated patients diagnosed with MH susceptibility.
|
25658027 |
2015 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sixty-two MH susceptible individuals presenting to the same diagnostic centre had copy deoxyribonucleic acid, derived from muscle ribonucleic acid, sequenced to identify variants with the potential to be responsible for the MH phenotype in both RYR1 and CACNA1S.
|
25735680 |
2015 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes.
|
25256590 |
2015 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, it has become clear that MH is associated with either of these 2 genes (RYR1 and CACNA1S) in only 50% to 70% of affected families.
|
24445638 |
2014 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
About half of malignant hyperthermia (MH) cases are associated with skeletal muscle ryanodine receptor 1 (RYR1) and calcium channel, voltage-dependent, L type, α1S subunit (CACNA1S) gene mutations, leaving many with an unknown cause.
|
24013571 |
2013 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Novel variants in both RYR1 and CACNA1S were found in the 1 subject who died of MH.
|
23558838 |
2013 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
Biomarker
|
disease |
BEFREE |
While MH is linked to the ryanodine receptor (RYR1) on chromosome 19 and the α1S subunit of the voltage-dependent L-type calcium channel (CACNA1S) on chromosome 1, mutations have been found in only 50-70% of patients, and subsequently, there is a need for a more powerful screening tool.
|
23035052 |
2013 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
Biomarker
|
disease |
BEFREE |
It provides a time line over the past half century of the highlights of research on malignant hyperthermia (MH), central core disease (CCD) and catecholaminergic polymorphic ventricular tachycardia (CPVT), that resulted in the identification of the ryanodine receptor (RYR), calsequestrin (CASQ) and dihydropyridine receptor (CACNA1S) genes as sites of disease-causing mutations.
|
21118704 |
2011 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Today, genetic investigations on ryanodine receptor type 1 (RYR1) gene and alpha1 subunit of the dihydropyridine receptor (DHPR) (CACNA1S) gene have improved the procedures associated with MH diagnosis.
|
19191329 |
2009 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore we present haplotype analysis of unphased CACNA1S SNPs to (1) assess CACNA1S haplotype frequency differences between susceptible MH cases and a European control group and (2) analyse population-based association via clustering of CACNA1S haplotypes based on disease risk.
|
19825159 |
2009 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened 64 individuals of 27 unrelated families for the most frequently described mutations associated with MH in the genes RYR1 and CACNL1A3.
|
14500992 |
2003 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Identification of new polymorphisms in the CACNA1S gene.
|
12636044 |
2003 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Defects in CACNA1S are not a major cause of MH in the UK population.
|
12066739 |
2002 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic alterations in the CACNA1S associated with MH are present in approximately 1% of this North American MHS population.
|
11260227 |
2001 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
SusceptibilityMutation
|
disease |
ORPHANET |
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
|
9175745 |
1997 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
SusceptibilityMutation
|
disease |
ORPHANET |
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 hyperpyrexia due to anesthesia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comparison of cDNA sequences encoding the skeletal muscle specific components of the dihydropyridine receptor alpha 1 subunit between MH susceptible (MHS) and MH non-susceptible (MHN) patients was made in subjects without the reported MH linked RYR1 mutations.
|
8592342 |
1995 |
|
Malignant hyperpyrexia due to anesthesia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|