Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na⁺ channel

• Published in: Acta Physiologica Vol. 194; no. 4; pp. 311 - 323
• Main Authors: Zhang, Y, Wang, T, Ma, A, Zhou, X, Gui, J, Wan, H, Shi, R, Huang, C, Grace, A.A, Huang, C.L.-H, Trump, D, Zhang, H, Zimmer, T, Lei, M
• Format: Journal Article
• Language: English
• Published: Oxford, UK Oxford, UK : Blackwell Publishing Ltd 01.12.2008; Blackwell Publishing Ltd; Wiley-Blackwell
• Subjects: Adult; Animals; Arrhythmias, Cardiac - genetics; Arrhythmias, Cardiac - metabolism; Biological and medical sciences; cardiac Na+ channels; cardiac Na⁺ channels; Cardiovascular; Electrocardiography; Female; Fundamental and applied biological sciences. Psychology; Heterozygote; Humans; Immunohistochemistry; Male; Microscopy, Confocal; Mutation - genetics; Myocardium - metabolism; novel mutation; Pedigree; pore-forming region; SCN5A; sick sinus syndrome; Sick Sinus Syndrome - genetics; Sick Sinus Syndrome - metabolism; Sodium Channels - genetics; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Xenopus; Correlation; Arrhythmia; Cardiovascular disease; Ionic channel; Excitability disorder; Sick sinus syndrome; Vertebrata; Mammalia; Sodium; Heart disease; novel mutation; pore-forming region; Mutation; SCNSA; cardiac Na+ channels

We compared the clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in domain II (S5-S6) of human, hNav1.5, cardiac Na⁺ channels. Full clinical evaluation of pedigree members through three generations of a Chinese family combined with SCN5A sequenci...