a novel c-terminal truncation scn5a mutation from a patient with sick sinus syndrome, conduction...
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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
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