IndraLab

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SCN5A activates BrS. 4 / 4
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"SCN5A mediated BrS (BrS1) is still the only common genetic substrate for BrS in general, particularly for young BrS males (< 20 years) and those BrS patients with a PQ interval> = 200ms who may have a 40 - 50% pre-test probability for a positive SCN5A genetic test result."

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"In the majority of patients, BrS is caused by mutations in the cardiac sodium channel gene SCN5A, which encodes the alpha-subunit of the sodium channel."

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"BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na (v) 1.5."

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"XREF_BIBR SCN5A mediated BrS (BrS1) represents the most common genetic subtype and loss-of-function mutations in the SCN5A encoded NaV1.5 sodium channel, accounting for approximately 20% of BrS."