title: Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
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.
authors.affiliation: Le Centre de Recherche Université Laval Robert-Giffard, Québec City, QC, Canada.
authors.forename: Hai
authors.initials: H
authors.lastname: Huang
authors.forename: Gilles
authors.initials: G
authors.lastname: Millat
authors.forename: Claire
authors.initials: C
authors.lastname: Rodriguez-Lafrasse
authors.forename: Robert
authors.initials: R
authors.lastname: Rousson
authors.forename: Béatrice
authors.initials: B
authors.lastname: Kugener
authors.forename: Philippe
authors.initials: P
authors.lastname: Chevalier
authors.forename: Mohamed
authors.initials: M
authors.lastname: Chahine
mesh_terms: D001483:Base Sequence; D002460:Cell Line; D004594:Electrophysiology; D006801:Humans; D007223:Infant; D015640:Ion Channel Gating; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D018408:Patch-Clamp Techniques; D012694:Serine / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism*; D013398:Sudden Infant Death / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels; D012694:Serine