Key result
The SCN5A mutation S1333Y showed a gain of Na(+) channel function characteristic of LQT3, including a persistent inward Na(+) current and an enhanced window current.
Case Report (n=1)
The S1333Y mutation in SCN5A causes a gain of function in Na+ channels characteristic of LQT3, suggesting it as the underlying etiology for SIDS in this infant.
Hypothesis-generating link between SCN5A S1333Y and LQT3 in SIDS; human validation required before any screening implications.
Various entities and genetic etiologies, including inherited long QT syndrome type 3 (LQT3), contribute to sudden infant death syndrome (SIDS). The goal of our research was to biophysically characterize a new SCN5A mutation (S1333Y) in a SIDS infant. S1333Y channels showed the gain of Na(+) channel function characteristic of LQT3, including a persistent inward Na(+) current and an enhanced window current that was generated by a -8 mV shift in activation and a +7 mV shift in inactivation. The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation.
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Huang et al. (2009) conducted a case report in Sudden infant death syndrome (SIDS) (n=1). SCN5A mutation S1333Y was evaluated on Biophysical characteristics of S1333Y channels. The SCN5A mutation S1333Y showed a gain of Na(+) channel function characteristic of LQT3, including a persistent inward Na(+) current and an enhanced window current.
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