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Article

Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density.

Journal of medical genetics - 1 Nov 2017

Shen Cheng, Xu Lei, Han Shasha, Dong Zhen, Zhao Xiaona, Wang Shaochun, Qian Sanli, Li Bingyu, Ma Xin, Wang Peng, Zhu Hong, Zou Yunzeng, Fan Zheng, Ge Junbo, Sun Aijun

Abstract excerpt

BACKGROUND: Variants of SCN5A, encoding cardiac sodium channel, have been linked to the development of dilated cardiomyopathy (DCM). We aimed to explore novel SCN5A variants in patients with idiopathic DCM (iDCM) and to identify the distribute characteristics and pathological mechanisms as well as clinical phenotypes associated with the variants in patients with iDCM. METHODS: SCN5A exons sequencing was performed...

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PMID: 28779003
DOI: 10.1136/jmedgenet-2017-104780

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