Publications:

The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease.

Frontiers In Cardiovascular Medicine

Wang, Mengru M; Tu, Xin X

Publication Date: 2022

Variant appearance in text: SCN5A: R800L

PubMed Link: 35783865

Variant Present in the following documents:

• Main text
• fcvm-09-891399.pdf

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: R800L

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

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Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.

Heart Rhythm

Anderson, Heather N HN; Bos, J Martijn JM; Kapplinger, Jamie D JD; Meskill, Jana M JM; Ye, Dan D; Ackerman, Michael J MJ

Publication Date: 2017-08

Variant appearance in text: SCN5A: R800L

PubMed Link: 28412158

Variant Present in the following documents:

• Main text

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Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics

Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ

Publication Date: 2015-08

Variant appearance in text: SCN5A: R800L

PubMed Link: 25904541

Variant Present in the following documents:

• Main text

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Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

American Journal Of Physiology. Heart And Circulatory Physiology

Hu, Rou-Mu RM; Tan, Bi-Hua BH; Orland, Kate M KM; Valdivia, Carmen R CR; Peterson, Amber A; Pu, Jielin J; Makielski, Jonathan C JC

Publication Date: 2013-04-01

Variant appearance in text: SCN5A: R800L

PubMed Link: 23376825

Variant Present in the following documents:

• Main text

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