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Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome
Author(s) -
Huang Hai,
Millat Gilles,
Rodriguez-Lafrasse Claire,
Rousson Robert,
Kugener Béatrice,
Chevalier Philippe,
Chahine Mohamed
Publication year - 2009
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2009.02.007
Subject(s) - sudden infant death syndrome , long qt syndrome , mutation , sudden death , medicine , genetics , biology , pediatrics , qt interval , gene
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.