IndraLab

Statements


Mutated SCN5A activates LQT-3. 2 / 2
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"Other less common mechanisms of SCN5A mutations to cause LQT-3 include increased window current [XREF_BIBR, XREF_BIBR], slower inactivation [XREF_BIBR, XREF_BIBR], faster recovery from inactivation [XREF_BIBR, XREF_BIBR], and larger peak I Na density [XREF_BIBR]."

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"More surprisingly, some SCN5A mutations cause symptoms of both LQT-3 (I Na gain-of-function) and BrS (I Na loss-of-function) in members of one family, or LQT-3 in one family and BrS in another [XREF_BIBR, XREF_BIBR, XREF_BIBR]."