Key result
SCN1B variants occur in ~3% of SCN5A-negative Brugada syndrome patients.
Why the study?
The contribution of SCN1B gene variants to Brugada syndrome has been poorly investigated, especially in SCN5A-negative patients.
Cross-Sectional (n=145)
No
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SCN1B screening yields low in SCN5A-negative Brugada syndrome; leaves open variant contribution and need for larger validation studies.
Ricci et al. (2014) conducted a cross-sectional in Brugada Syndrome (n=145). SCN1B gene variants was evaluated on Prevalence of likely pathogenic SCN1B variants. Genetic screening of 145 SCN5A-negative patients with Brugada syndrome identified four likely pathogenic SCN1B variants, indicating a low prevalence of 2.75%.
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