scholarly journals Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

2002 ◽  
Vol 110 (8) ◽  
pp. 1201-1209 ◽  
Author(s):  
Augustus O. Grant ◽  
Michael P. Carboni ◽  
Valentina Neplioueva ◽  
C. Frank Starmer ◽  
Mirella Memmi ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Brugada Syndrome ◽  
Conduction System ◽  
Long Qt ◽  
System Disease ◽  
Conduction System Disease ◽  
Channel Mutation ◽  
Sodium Channel Mutation ◽  
Qt Syndrome ◽  
Single Sodium Channel

Conduction system disease in a child with long QT syndrome

1990 ◽  
Vol 120 (4) ◽  
pp. 984-986 ◽  
Author(s):  
Christopher L. Case ◽  
Paul C. Gillette
Keyword(s):  
Long Qt Syndrome ◽  
Conduction System ◽  
Long Qt ◽  
System Disease ◽  
Conduction System Disease ◽  
Qt Syndrome

Hereditary Long QT Syndrome Associated with Cardiac Conduction System Disease

1989 ◽  
Vol 12 (3) ◽  
pp. 479-485 ◽  
Author(s):  
ARNOLD J. GREENSPON ◽  
GREGORY A. KIDWELL ◽  
LINDA D. BARRASSE ◽  
SCOTT E. HESSEN ◽  
MICHAEL GIUDICI
Keyword(s):  
Long Qt Syndrome ◽  
Conduction System ◽  
Cardiac Conduction ◽  
Cardiac Conduction System ◽  
Long Qt ◽  
System Disease ◽  
Conduction System Disease ◽  
Qt Syndrome

scholarly journals Molecular Pharmacology of the Sodium Channel Mutation D1790G Linked to the Long-QT Syndrome

Circulation ◽  
2000 ◽  
Vol 102 (8) ◽  
pp. 921-925 ◽  
Author(s):  
H. Abriel ◽  
X. H. T. Wehrens ◽  
J. Benhorin ◽  
B. Kerem ◽  
R. S. Kass
Keyword(s):  
Sodium Channel ◽  
Long Qt Syndrome ◽  
Molecular Pharmacology ◽  
Long Qt ◽  
Channel Mutation ◽  
Sodium Channel Mutation ◽  
Qt Syndrome

Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease

2007 ◽  
Vol 292 (1) ◽  
pp. H399-H407 ◽  
Author(s):  
Zhu-Shan Zhang ◽  
Joseph Tranquillo ◽  
Valentina Neplioueva ◽  
Nenad Bursac ◽  
Augustus O. Grant
Keyword(s):  
Action Potential ◽  
Sodium Channel ◽  
Brugada Syndrome ◽  
Sodium Current ◽  
Conduction System ◽  
Cardiac Conduction ◽  
Cardiac Conduction System ◽  
Wild Type ◽  
System Disease ◽  
Conduction System Disease

Some mutations of the sodium channel gene NaV1.5 are multifunctional, causing combinations of LQTS, Brugada syndrome and progressive cardiac conduction system disease (PCCD). The combination of Brugada syndrome and PCCD is uncommon, although they both result from a reduction in the sodium current. We hypothesize that slow conduction is sufficient to cause S-T segment elevation and undertook a combined experimental and theoretical study to determine whether conduction slowing alone can produce the Brugada phenotype. Deletion of lysine 1479 in one of two positively charged clusters in the III/IV inter-domain linker causes both syndromes. We have examined the functional effects of this mutation using heterologous expression of the wild-type and mutant sodium channel in HEK-293-EBNA cells. We show that ΔK1479 shifts the potential of half-activation, V1/2m, to more positive potentials ( V1/2m = −36.8 ± 0.8 and −24.5 ± 1.3 mV for the wild-type and ΔK1479 mutant respectively, n = 11, 10). The depolarizing shift increases the extent of depolarization required for activation. The potential of half-inactivation, V1/2h, is also shifted to more positive potentials ( V1/2h = −85 ± 1.1 and −79.4 ± 1.2 mV for wild-type and ΔK1479 mutant respectively), increasing the fraction of channels available for activation. These shifts are quantitatively the same as a mutation that produces PCCD only, G514C. We incorporated experimentally derived parameters into a model of the cardiac action potential and its propagation in a one dimensional cable (simulating endo-, mid-myocardial and epicardial regions). The simulations show that action potential and ECG changes consistent with Brugada syndrome may result from conduction slowing alone; marked repolarization heterogeneity is not required. The findings also suggest how Brugada syndrome and PCCD which both result from loss of sodium channel function are sometimes present alone and at other times in combination.

scholarly journals The citrus flavanone hesperetin preferentially inhibits slow‐inactivating currents of a long QT syndrome type 3 syndrome Na + channel mutation

2019 ◽  
Vol 176 (8) ◽  
pp. 1090-1105 ◽  
Author(s):  
Julio Alvarez‐Collazo ◽  
Alejandro López‐Requena ◽  
Loipa Galán ◽  
Ariel Talavera ◽  
Julio L. Alvarez ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Na Channel ◽  
Syndrome Type ◽  
Long Qt ◽  
Channel Mutation ◽  
Qt Syndrome ◽  
Type 3

scholarly journals Safe drug use in long QT syndrome and Brugada syndrome: comparison of website statistics

EP Europace ◽  
2013 ◽  
Vol 15 (7) ◽  
pp. 1042-1049 ◽  
Author(s):  
Pieter G. Postema ◽  
Jon Neville ◽  
Jonas S.S.G. de Jong ◽  
Klaus Romero ◽  
Arthur A.M. Wilde ◽  
...  
Keyword(s):  
Drug Use ◽  
Long Qt Syndrome ◽  
Brugada Syndrome ◽  
Long Qt ◽  
Qt Syndrome
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