SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes.
Keiko SonodaSeiko OhnoYukiko ShimizuKazuaki KaitaniTakeru MakiyamaYoshihisa NakagawaMinoru HoriePublished in: Pacing and clinical electrophysiology : PACE (2020)
We identified an SCN5A mutation in a scTdP patient and confirmed that the mutant channel caused the shortness of recovery time from inactivation. SCN5A might be a candidate gene for scTdP.
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