Acknowledgement
This work was supported by the National Research Foundation of Korea (NRF) funded by the Korea government (MSIT) [NRF-2018R1A5A2025964 and NRF-2021R1A2C2007 to S.J.K, NRF-2022R1A2C2009067 to H.-J.P, RS-2023-00213304 to S.W.C] and by the Dongguk University Research Program of 2021 to S.W.C.
References
- Napolitano C, Bloise R, Monteforte N, Priori SG. Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation. 2012;125:2027-2034. https://doi.org/10.1161/CIRCULATIONAHA.111.055947
- Rook MB, Evers MM, Vos MA, Bierhuizen MF. Biology of cardiac sodium channel Nav1.5 expression. Cardiovasc Res. 2012;93:12-23. https://doi.org/10.1093/cvr/cvr252
- Wilde AAM, Amin AS. Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy. JACC Clin Electrophysiol. 2018;4:569-579. https://doi.org/10.1016/j.jacep.2018.03.006
- Carmeliet E. Congenital LQT syndrome from gene to torsade de pointes. Korean J Physiol Pharmacol. 2002;6:1-8.
- Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, Priori S. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest. 2002;110:1201-1209. https://doi.org/10.1172/JCI0215570
- Remme CA, Wilde AA. SCN5A overlap syndromes: no end to disease complexity? Europace. 2008;10:1253-1255. https://doi.org/10.1093/europace/eun267
- Porretta AP, Probst V, Bhuiyan ZA, Davoine E, Deliniere A, Pascale P, Schlaepfer J, Superti-Furga A, Pruvot E. SCN5A overlap syndromes: an open-minded approach. Heart Rhythm. 2022;19:1363-1368. https://doi.org/10.1016/j.hrthm.2022.03.1223
- Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, BinkBoelkens MT, van Der Hout AH, Mannens MM, Wilde AA. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res. 1999;85:1206-1213. https://doi.org/10.1161/01.RES.85.12.1206
- Remme CA, Wilde AA, Bezzina CR. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med. 2008;18:78-87. https://doi.org/10.1016/j.tcm.2008.01.002
- Nakaya H. SCN5A mutations associated with overlap phenotype of long QT syndrome type 3 and Brugada syndrome. Circ J. 2014;78:1061-1062. https://doi.org/10.1253/circj.CJ-14-0319
- Chae H, Kim J, Lee GD, Jang W, Park J, Jekarl DW, Oh YS, Kim M, Kim Y. Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. Clin Chim Acta. 2017;464:128-135. https://doi.org/10.1016/j.cca.2016.11.013
- O'Malley HA, Isom LL. Sodium channel β subunits: emerging targets in channelopathies. Annu Rev Physiol. 2015;77:481-504. https://doi.org/10.1146/annurev-physiol-021014-071846
- Gaborit N, Le Bouter S, Szuts V, Varro A, Escande D, Nattel S, Demolombe S. Regional and tissue specific transcript signatures of ion channel genes in the non-diseased human heart. J Physiol. 2007;582:675-693. https://doi.org/10.1113/jphysiol.2006.126714
- Makita N, Bennett PB Jr, George AL Jr. Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. J Biol Chem. 1994;269:7571-7578. https://doi.org/10.1016/S0021-9258(17)37325-8
- Calhoun JD, Isom LL. The role of non-pore-forming β subunits in physiology and pathophysiology of voltage-gated sodium channels. Handb Exp Pharmacol. 2014;221:51-89. https://doi.org/10.1007/978-3-642-41588-3_4
- Daimi H, Lozano-Velasco E, Aranega A, Franco D. Genomic and non-genomic regulatory mechanisms of the cardiac sodium channel in cardiac arrhythmias. Int J Mol Sci. 2022;23:1381.
- Abriel H, Rougier JS, Jalife J. Ion channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac death. Circ Res. 2015;116:1971-1988. https://doi.org/10.1161/CIRCRESAHA.116.305017
- Clatot J, Neyroud N, Cox R, Souil C, Huang J, Guicheney P, Antzelevitch C. Inter-regulation of Kv4.3 and voltage-gated sodium channels underlies predisposition to cardiac and neuronal channelopathies. Int J Mol Sci. 2020;21:5057.
- Wan X, Wang Q, Kirsch GE. Functional suppression of sodium channels by beta(1)-subunits as a molecular mechanism of idiopathic ventricular fibrillation. J Mol Cell Cardiol. 2000;32:1873-1884. https://doi.org/10.1006/jmcc.2000.1223
- Zimmer T, Surber R. SCN5A channelopathies--an update on mutations and mechanisms. Prog Biophys Mol Biol. 2008;98:120-136. https://doi.org/10.1016/j.pbiomolbio.2008.10.005
- Han D, Tan H, Sun C, Li G. Dysfunctional Nav1.5 channels due to SCN5A mutations. Exp Biol Med (Maywood). 2018;243:852-863. https://doi.org/10.1177/1535370218777972