Referenced in: none

Automatically associated channels: Kv7.1 , Nav1.5

Title: Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.

Authors: Hai Huang, Gilles Millat, Claire Rodriguez-Lafrasse, Robert Rousson, Béatrice Kugener, Philippe Chevalier, Mohamed Chahine

Journal, date & volume: FEBS Lett., 2009 Mar 4 , 583, 890-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19302788

Abstract
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.