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Article

SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes.

Pacing and clinical electrophysiology : PACE - 1 May 2020

Sonoda Keiko, Ohno Seiko, Shimizu Yukiko, Kaitani Kazuaki, Makiyama Takeru, Nakagawa Yoshihisa, Horie Minoru

Abstract excerpt

BACKGROUND: Short-coupled variant of torsades de pointes (scTdP) is a disease characterized by TdP without QT prolongation, which is initiated by extremely short-coupled ventricular extra-systoles. Its genetic background remains rarely unveiled. OBJECTIVE: We aimed to identify genetic variations in patients with scTdP and to analyze the functional change of the mutant Na+ channel identified in a scTdP patient....

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PMID: 32323320
DOI: 10.1111/pace.13924

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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