Article
Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
FEBS letters - 4 Mar 2009
Huang Hai, Millat Gilles, Rodriguez-Lafrasse Claire, Rousson Robert, Kugener Béatrice, Chevalier Philippe, Chahine Mohamed
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
