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Mutated SCN5A inhibits sodium(1+). 8 / 8
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"Although many SCN5A mutations reduce sodium current densities by more than 80%, some of them decrease peak currents by only ~ 15% (e.g., L567Q and R1023H) [XREF_BIBR, XREF_BIBR]."
27560382
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"Accordingly, experimental studies suggest that BrS linked SCN5A mutations reduce sodium current more at fast heart rates."
19843921
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"Electrophysiological studies using cell expression systems and animal models demonstrated that the attenuated sodium channel function caused by these SCN5A mutations can result in the loss of the action potential (AP) dome, thereby exaggerating the transmural repolarization gradient [XREF_BIBR]."
27560382
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"Functional analyses have revealed that most SCN5A mutations lead to a loss of function of cardiac sodium channels by reducing the sodium current (I Na) available during the early phase of the cardiac [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
17141278
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"In contrast, Brugada and conduction disease SCN5A mutations diminish sodium current, resulting in a ' loss of function ' [XREF_BIBR]."
20224391
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"Loss-of-function sodium channelopathies are autosomal dominant inherited conditions in which SCN5A mutations produce sodium channels that conduct less sodium current (I Na)."
19251209
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"SCN5A mutations may reduce I Na by changing the functional properties (gating) of the sodium channel protein 16 or by resulting in its failure to express in the sarcolemma (trafficking)."
19251209
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"Cardiac sodium current reduction caused by SCN5A mutations may facilitate AFib by slowing intra-atrial conduction and inducing structural changes, but also prevent it by suppressing atrial ectopic activity."
21273195