Key result
Cardiac ion channel mutations in KCNQ1, HERG, KCNE1, and SCN5A underlie long-QT syndrome.
Population
Patients with long-QT syndrome (LQTS)
Design
Review
Authors
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Supports molecular diagnosis in suspected LQTS; leaves open whether gene-specific therapies improve outcomes.
Understanding the molecular genetics of LQTS highlights the role of ion channel mutations in cardiac repolarization defects, paving the way for future gene-specific diagnostics and therapies.
Wattanasirichaigoon et al. (1998) conducted a review in Long-QT syndrome (LQTS). Mutations in genes encoding structural or regulatory subunits for cardiac ion channels (KCNQ1, HERG, KCNE1, SCN5A) have been identified as the molecular basis for long-QT syndrome.
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