Key result
The novel F193L mutation in the KCNQ1 gene suppressed peak and tail currents by 23.3% and 38.2% respectively compared to wild-type, resulting in a mildly affected clinical phenotype.
Population
One family with long QT syndrome, 100 normal controls, and 140 other LQTS patients. Preclinical model…
Comparison
F193L mutation in the KCNQ1 gene vs Wild-type KCNQ1 gene
Design
Preclinical
Authors
Loading...
May indicate lower risk for F193L carriers; leaves open clinical translation pending human validation.
Case Report (n=4)
The novel F193L mutation in the KCNQ1 gene causes mild suppression of potassium currents, correlating with a mild clinical phenotype of long QT syndrome without history of syncope or sudden death.
Yamaguchi et al. (2003) conducted a case report in Long QT syndrome (n=4). F193L mutation in the KCNQ1 gene vs. Wild-type KCNQ1 was evaluated on Peak and tail K(+) currents. The novel F193L mutation in the KCNQ1 gene suppressed peak and tail currents by 23.3% and 38.2% respectively compared to wild-type, resulting in a mildly affected clinical phenotype.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: