Document Detail

Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
MedLine Citation:
PMID:  19302788     Owner:  NLM     Status:  MEDLINE    
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.
Hai Huang; Gilles Millat; Claire Rodriguez-Lafrasse; Robert Rousson; Béatrice Kugener; Philippe Chevalier; Mohamed Chahine
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-02-10
Journal Detail:
Title:  FEBS letters     Volume:  583     ISSN:  1873-3468     ISO Abbreviation:  FEBS Lett.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-03-23     Completed Date:  2009-04-10     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  0155157     Medline TA:  FEBS Lett     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  890-6     Citation Subset:  IM    
Le Centre de Recherche Université Laval Robert-Giffard, Québec City, QC, Canada.
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MeSH Terms
Base Sequence
Cell Line
Ion Channel Gating
Long QT Syndrome / complications*,  genetics*,  metabolism
Muscle Proteins / genetics*,  metabolism*
Mutation / genetics*
Patch-Clamp Techniques
Serine / genetics,  metabolism
Sodium Channels / genetics*,  metabolism*
Sudden Infant Death / genetics*
Reg. No./Substance:
0/Muscle Proteins; 0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha; 56-45-1/Serine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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