Download presentation
Presentation is loading. Please wait.
Published byMeghan Harrington Modified over 8 years ago
1
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia by Bi-Hua Tan, Pedro Iturralde-Torres, Argelia Medeiros-Domingo, Santiago Nava, David J. Tester, Carmen R. Valdivia, Teresa Tusié-Luna, Michael J. Ackerman, and Jonathan C. Makielski Cardiovasc Res Volume 76(3):409-417 February 1, 2008 Copyright © 2007, European Society of Cardiology
2
Electrocardiographic phenotypes. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology
3
(A) Topological diagram of SCN5A showing a 4 base pair deletion (TCTG) after codon at no. 1821. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology
4
Comparing the peak or late current of mutant L1821fs/10 and WT in the most common splice variant SCN5A-Q1077del background. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology
5
Voltage dependence of time to peak (A), fast time constant (B), slow time constant (C), and fast fractional amplitude of current decay (D). Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology
6
Voltage-dependent gating for L1821fs/10 and WT in the Q1077del splice variant background. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology
7
Confocal images of HEK-293 cells expressing the L1821fs/10 (top panel) and WT (bottom panel) with FLAG-tagged sodium channels. Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417 Copyright © 2007, European Society of Cardiology
Similar presentations
© 2024 SlidePlayer.com Inc.
All rights reserved.