Associated Papers
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.
Zhou W et al.
Bmc Pediatrics, 2023
A reconstituted depolarization-induced Ca2+ release platform for validation of skeletal muscle disease mutations and drug discovery.
Murayama T et al.
The Journal of General Physiology, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
A population study of clinically actionable genetic variation affecting drug response from the Middle East.
Jithesh PV et al.
Npj Genomic Medicine, 2022
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Skeletal muscle CaV1.1 channelopathies.
Flucher BE
Pflugers Archiv : European Journal of Physiology, 2020
Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.
Avnon T et al.
Journal of Pediatric Genetics, 2020
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
The current status of malignant hyperthermia.
Yang L et al.
Journal of Biomedical Research, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.
Anandan C et al.
European Journal of Neurology, 2018
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
Riazi S et al.
Anesthesiology, 2018
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter V et al.
Frontiers in Physiology, 2018
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Treves S et al.
Seminars in Cell & Developmental Biology, 2017
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2016
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.
Barrientos GC et al.
The Journal of Biological Chemistry, 2012
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
Rodriguez-Flores JL et al.
Plos One, 2012
Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
Bidaud I et al.
Biochimie, 2011
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.
Pirone A et al.
American Journal of Physiology. Cell Physiology, 2010
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J et al.
Pflugers Archiv : European Journal of Physiology, 2010
A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene.
Toppin PJ et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2010
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
Ke T et al.
Journal of Human Genetics, 2009
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D et al.
Bmc Medical Genetics, 2009
Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
Broman M et al.
British Journal of Anaesthesia, 2009
[Human calcium channelopathies. Voltage-gated Ca(2+) channels in etiology, pathogenesis, and pharmacotherapy of neurologic disorders].
Weiergräber M et al.
Der Nervenarzt, 2008
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Voltage-gated calcium channels in genetic diseases.
Bidaud I et al.
Biochimica Et Biophysica Acta, 2006
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Muscle channelopathies and critical points in functional and genetic studies.
Jurkat-Rott K et al.
The Journal of Clinical Investigation, 2005
L-type Ca2+ channels in Ca2+ channelopathies.
Striessnig J et al.
Biochemical and Biophysical Research Communications, 2004
Severe prognosis in a large family with hypokalemic periodic paralysis.
Caciotti A et al.
Muscle & Nerve, 2003
Current concepts in malignant hyperthermia.
Finsterer J
Journal of Clinical Neuromuscular Disease, 2002
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
Monnier N et al.
Anesthesiology, 2002
The skeletal muscle channelopathies: basic science, clinical genetics and treatment.
Davies NP et al.
Current Opinion in Neurology, 2001
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
Sambuughin N et al.
Neuromuscular Disorders : Nmd, 2001
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
Sambuughin N et al.
Anesthesiology, 2001
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.
Stewart SL et al.
Clinical Genetics, 2001
Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
Vainzof M et al.
Genetic Testing, 2000
To fire the train: a second malignant-hyperthermia gene.
Hogan K
American Journal of Human Genetics, 1997
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.
Monnier N et al.
American Journal of Human Genetics, 1997
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0