Associated Papers
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Heymans ABM et al.
Current Cardiology Reports, 2025
Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.
Tonggu L et al.
Nature Communications, 2024
38485923 (PubMed )
Supplement: 41467_2024_45958_MOESM1_ESM.pdf
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
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S13
Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.
Hilke FJ et al.
Cancers, 2020
32825510 (PubMed )
Supplement: cancers-12-02359-s001.zip › cancers-898298-supplementary › SupplementTable_1-14_20200710.xlsx › Table_S5
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
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