![Page 1: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/1.jpg)
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 ResVolume 76(3):409-417
February 1, 2008
Copyright © 2007, European Society of Cardiology
![Page 2: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/2.jpg)
Electrocardiographic phenotypes.
Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417
Copyright © 2007, European Society of Cardiology
![Page 3: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/3.jpg)
(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
![Page 4: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/4.jpg)
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
![Page 5: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/5.jpg)
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
![Page 6: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/6.jpg)
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
![Page 7: A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder…](https://reader035.vdocuments.site/reader035/viewer/2022081606/5a4d1bda7f8b9ab0599dbf98/html5/thumbnails/7.jpg)
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