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. Author manuscript; available in PMC: 2017 Apr 1.
Published in final edited form as: Circ Arrhythm Electrophysiol. 2016 Apr;9(4):10.1161/CIRCEP.115.003631 e003631. doi: 10.1161/CIRCEP.115.003631

Figure 5.

Figure 5

PKP2 mutations associate with Brugada syndrome and with reduced sodium current. (Top left) Representative ECG showing ST-segment elevation, diagnostic for Brugada Syndrome, in one of the five patients carriers of missense mutations on the PKP-2 gene, and correspondent electropherograms showing the specific aminoacid substitution R635Q. (Bottom left) Sodium current amplitude recorded inHL1 cells silenced for PKP-2 (PKP2-KD) transfected with the mutant (red), anempty vector (blue), or wild-ype PKP-2 (black). (Right) pedigree of the family showing co-segregation between the PKP-2 mutation and the clinical Phenotype. Hx = history; SD=sudden death. Adapted from Cerrone et al21.