IndraLab

Statements

Mutated SCN5A activates sodium(1+). 10 / 10
| 10
reach
"The Anemonia sulcata toxin II (ATX-II) is known to slow the inactivation of Na V 1.5 22 , thereby increasing total sodium flux and simulating a gain-of-function SCN5A mutation that causes a persistent[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
34044121
reach
"In contrast, loss of function SCN5A mutations underlying Brugada syndrome and conduction disease were reported to reduce the total amount of available sodium current, either owing to impaired intracel[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
18436145
reach
"The T1620M SCN5A mutant was shown to recover more rapidly than wild-type channels [13], in contradistinction to SCN5A mutations responsible for LQT3, which typically cause a persistent noninactivating[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
12051963
reach
"Our study supports the concept that febrile illness predisposes individuals who carry a loss of function SCN5A mutation, such as V1340I, to fever induced ventricular arrhythmias in BrS by significantly reducing the sodium currents in the hyperthermic state."
19648062
reach
"By contrast, SCN5A mutations probably cause subtle alterations of cardiac sodium channel function and prolonged depolarizing currents."
7788908
reach
"As " gain-of-function " SCN5A mutations induce an excess of sodium entering into the cells, sodium channel blockade represents a rational approach for gene specific therapy in LQT3."
29983085
reach
"It was suggested that Allicin can not only inhibit the I Na, L of the DeltaKPQ SCN5A mutation but also increase the distribution of the sodium channels on the cell membrane, thus increasing the I Na, P and further reducing the ratio of the I Na, L / I Na, P."
33854440
reach
"Importantly, one single SCN5A mutation may cause several changes in the expression and/or gating properties of the resulting sodium channels."
20091048
reach
"Mutant Nav1.5 causes alterations in the peak and late sodium current, which is associated with an increasingly wide range of congenital arrhythmias [ 27 ]."
35462093
reach
"Furthermore, the loss of function SCN5A mutation impedes phase 0 entrance of sodium into cardiomyocytes (depolarization) and phase 2 efflux of sodium (plateau) - it is this gradient that allows calcium to enter the cell via the sodium/calcium exchanger, but the lack of calcium influx would lead to weakened contractility [XREF_BIBR]."
| PMC