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. 2021 Jan 8;11:616819. doi: 10.3389/fphys.2020.616819

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Copyright © 2021 Di Mauro, Ceriotti, Lodola, Salvarani, Modica, Bang, Mazzanti, Napolitano, Priori and Catalucci.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Brugada patients with novel Ca_vα1.2 loss-of-function (LoF) mutations. (A) DNA sequence analysis showing the two heterozygous single nucleotide substitutions (arrows) in Ca_vα1.2 responsible for the T320M and Q428E missense mutations, and a schematic representation of Ca_vα1.2, indicating the location (stars) of mutants. (B) Baseline ECGs showing type 1 coved ST segment elevation pattern (arrows) in the two patients. AID, alpha-interaction domain.