Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria.
Noguchi A et al.
International Journal of Molecular Sciences, 2024
Pathogenic mutations perturb calmodulin regulation of Nav1.8 channel.
Hong L et al.
Biochemical and Biophysical Research Communications, 2020
Multiple clinical profiles of families with the short QT syndrome.
Akdis D et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2018
Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.
Abou Ziki MD et al.
Clinical Genetics, 2018
Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality.
Ghouse J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
Te Riele AS et al.
Journal of Cardiovascular Translational Research, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Hu D et al.
Journal of the American College of Cardiology, 2014