Associated Papers
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design.
Santos RC et al.
Heliyon, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
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
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
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
30319441 (PubMed )
Supplement: Table_1.DOCX
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA et al.
Physiological Genomics, 2017
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
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
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
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
L-type Ca2+ channels in Ca2+ channelopathies.
Striessnig J et al.
Biochemical and Biophysical Research Communications, 2004
No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population.
Brooks C et al.
British Journal of Anaesthesia, 2002
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