Characteristics of the probands carrying non-reported potentially pathogenic variations (PPVs) in <i>SCN5A</i> and their families.

<p><i>Left</i>: Electrocardiograms of the probands: <b>(A)</b> patient carrying the p.R569Pfs*151 variation, showing the ST elevation characteristic of BrS in V1 at the time of the flecainide test; <b>(B)</b> patient carrying the p.E625Rfs*95 variation, showing the spontaneous ST elevation characteristic of BrS in V1 and V2; and <b>(C)</b> patient carrying the p.R1623Efs*7 variation, showing the spontaneous ST elevation characteristic of BrS in V1 and V2. <i>Middle</i>: Family pedigrees. Open symbols designate clinically normal subjects, filled symbols mark clinically affected individuals and question marks identify subjects without an available clinical diagnosis. Plus signs indicate the carriers of the PPVs and minus signs, non-carriers. The crosses mark deceased individuals and arrows identify the proband. <i>Right</i>: Detail of the electropherograms obtained after <i>SCN5A</i> sequence analysis of a control subject (left panels) and of the probands (right panels).