IndraLab

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Mutated SCN5A activates sodium atom. 8 / 8
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"In this context it is notable that LQT3 syndrome has been associated with familial atrial fibrillation (AF) [XREF_BIBR - XREF_BIBR], and a large proportion of SCN5A mutations found in young patients with lone AF actually increased I Na, late [XREF_BIBR]."
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"SCN5A mutations lead to gain of function of Na + channel activity."
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"In summary, the phenotypic characterization of this mouse model has demonstrated that a single SCN5A mutation is sufficient to cause an overlap syndrome of cardiac Na + channel diseases."
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"Hereditary PCCD has been attributed to loss-of-function SCN5A mutations that reduce Na + current by decreasing sarcolemmal expression of channel proteins, causing an expression of non functional channels, or altering channel gating properties through delayed activation, earlier inactivation, enhanced slow inactivation, or slowed recovery from inactivation."
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"Enhanced late I Na caused by the mutation of SCN5A was initially reported to be contributed to arrhythmias in patients with LQTs 3."
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"The SCN5A mutations underlying MEPPC are typically gain-of-function mutations due to an increased window I Na, faster recovery from inactivation and/or increased channel availability of Na V 1.5 (see, and primary references cited therein)."
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"Malan et al. developed hiPSC-CMs from an LQT3 patient with an SCN5A mutation, known to mediate fast Na v 1.5 channel inactivation."
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"Na + influx can be increased several-fold when late I Na is enhanced by ischemia, lysophosphatidylcholine, H 2 O 2, or SCN5A mutations thus increasing the incidence of DADs."
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