Associated Papers
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.
Ye D et al.
Circulation. Genomic and Precision Medicine, 2024
39119706 (PubMed )
Supplement: circgenetics_circcvg-2024-004584_supp1.pdf
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.
Soh MS et al.
Epilepsia, 2022
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
Cardiac transplantation in children and adolescents with long QT syndrome.
Kelle AM et al.
Heart Rhythm, 2017
Reply: Did Mutation Type Affect the Efficacy of Mexiletine Observed in Patients With LQTS Type 3?
Mazzanti A et al.
Journal of the American College of Cardiology, 2017
Did Mutation Type Affect the Efficacy of Mexiletine Observed in Patients With LQTS Type 3?
Hameed A
Journal of the American College of Cardiology, 2017
Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3.
Mazzanti A et al.
Journal of the American College of Cardiology, 2016
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
Select a paper to view details