Why the study?
What is the frequency of SCN5A mutations in patients with Long QT Syndrome?
What is the frequency of SCN5A mutations in patients with Long QT Syndrome?
SCN5A mutations are responsible for only a small proportion of Long QT Syndrome cases, though novel mutations T1645M and T1304M were identified.
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SCN5A testing has low yield in LQTS; leaves open broader gene panels and mutation discovery.
Wattanasirichaigoon et al. (1999) studied this question.
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