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

Electrocardiographic phenotypes.

Bi-Hua Tan et al. Cardiovasc Res 2007;76:409-417

Copyright © 2007, European Society of Cardiology

(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

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

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

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

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