Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
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
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.
Zhang Z et al.
Frontiers in Cardiovascular Medicine, 2021
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
31032819 (PubMed )
Supplement: ijms-20-02123-s001.pdf
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
Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan.
Juang JM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 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 › SCN5A_BrS
Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
Juang JM et al.
Scientific Reports, 2014
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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