Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening

Author:

Abramochkin Denis,Li Bowen,Zhang Han,Kravchuk Ekaterina,Nesterova Tatiana,Glukhov Grigory,Shestak Anna,Zaklyazminskaya Elena,Sokolova Olga S.

Publisher

Pleiades Publishing Ltd

Reference36 articles.

1. Cerrone, M., Costa, S., and Delmar, M. (2022) The genetics of Brugada syndrome, Annu. Rev. Genom. Hum. Genet., 23, 255-274, https://doi.org/10.1146/annurev-genom-112921-011200.

2. Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D., Moya, A., Borggrefe, M., Breithardt, G., Ortiz-Lopez, R., Wang, Z., Antzelevitch, C., O’Brien, R. E., Schulze-Bahr, E., Keating, M. T., Towbin, J. A., and Wang, Q. (1998) Genetic basis and molecular mechanism for idiopathic ventricular fibrillation, Nature, 392, 293-296, https://doi.org/10.1038/32675.

3. Brugada, J., Campuzano, O., Arbelo, E., Sarquella-Brugada, G., and Brugada, R. (2018) Present status of Brugada syndrome: JACC state-of-the-art review, J. Am. Coll. Cardiol., 72, 1046-1059, https://doi.org/10.1016/j.jacc.2018.06.037.

4. Priori, S. G., Napolitano, C., Schwartz, P. J., Bloise, R., Crotti, L., and Ronchetti, E. (2000) The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge, Circulation, 102, 945-947, https://doi.org/10.1161/01.CIR.102.9.945.

5. Wilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martinez, H., Behr, E. R., Bezzina, C. R., Breckpot, J., Charron, P., Chockalingam, P., Crotti, L., Gollob, M. H., Lubitz, S., Makita, N., Ohno, S., Ortiz-Genga, M., Sacilotto, L., Schulze-Bahr, E., Shimizu, W., Sotoodehnia, N., Tadros, R., Ware, J. S., Winlaw, D. S., Kaufman, E. S., et al. (2022) European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases, Europace, 24, 1307-1367, https://doi.org/10.1093/europace/euac030.

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