Associated Papers
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.
Gütter C et al.
Frontiers in Physiology, 2013
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.
Rangaraju A et al.
Indian Pacing and Electrophysiology Journal, 0
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