Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

Autor: Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro

Publikováno v: Stem Cells International, Vol 2020 (2020)

Background. We report an inherited cardiac arrhythmia syndrome consisting of Brugada and Early Repolarization Syndrome associated with variants in SCN9A, PXDNL, and FKBP1B. The proband inherited the 3 mutations and exhibited palpitations and arrhythm

Externí odkaz: https://doaj.org/article/680c9642bcdf4b898046c0ee9402fb20

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

Autor: Charles Antzelevitch, Vladimir Kaplan, Alessandra Baumer, Christian Templin, Heinrich Sticht, Thomas F. Lüscher, Hector Barajas-Martinez, Dan Hu, Anita Rauch, Hugues Abriel, Jelena-Rima Ghadri, Maxime Albesa, Jean-Sébastien Rougier, Firat Duru, Colleen Puleo

Publikováno v: European heart journal
Templin, Christian; Ghadri, Jelena-Rima; Rougier, Jean-Sébastien; Baumer, Alessandra; Kaplan, Vladimir; Albesa, Maxime; Sticht, Heinrich; Rauch, Anita; Puleo, Colleen; Hu, Dan; Barajas-Martinez, Héctor; Antzelevitch, Charles; Lüscher, Thomas F; Abriel, Hugues; Duru, Firat (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9), pp. 1077-88. Oxford: Oxford University Press 10.1093/eurheartj/ehr076

AIMS Short QT syndrome (SQTS) is a genetically determined ion channel disorder which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far mutations in five different genes encoding potassium and calcium channel subunits have been r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cded206c3cf98e1c43acb280f77be962