Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A-Reference-Cited by-同舟云学术

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Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A

Published:2009-08 Issue:8 Volume:6 Page:1170-1175
ISSN:1547-5271
Container-title:Heart Rhythm
language:en
Short-container-title:Heart Rhythm

Author:

Medeiros-Domingo Argelia,Tan Bi-Hua,Iturralde-Torres Pedro,Tester David J.,Tusié-Luna Teresa,Makielski Jonathan C.,Ackerman Michael J.

Publisher

Elsevier BV

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Reference34 articles.

1. International Union of Pharmacology;Catterall;Pharmacol Rev,2005

2. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome;Wang;Cell,1995

3. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation;Chen;Nature,1998

4. Cardiac conduction defects associate with mutations in SCN5A;Schott;Nat Genet,1999

5. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A);Benson;J Clin Invest,2003

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1. Cellular-level analyses of SCN5A mutations in left ventricular noncompaction cardiomyopathy suggest electrophysiological mechanisms for ventricular tachycardia;Biochemistry and Biophysics Reports;2024-03

2. Biophysical mechanisms of myocardium sodium channelopathies;Pflügers Archiv - European Journal of Physiology;2024-03-01

3. EENovel SCN5A frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead;Experimental and Therapeutic Medicine;2023-05-02

4. Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts;Genes;2021-12-22

5. Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report;Frontiers in Cardiovascular Medicine;2020-07-24

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