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Article

The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.

Medicine - 1 Jun 2016

Zheng Jinxiang, Zhou Feng, Su Terry, Huang Lei, Wu Yeda, Yin Kun, Wu Qiuping, Tang Shuangbo, Makielski Jonathan C, Cheng Jianding

Abstract excerpt

Increasing evidence observed in clinical phenotypes show that abrupt breathing disorders during sleep may play an important role in the pathogenesis of sudden unexplained nocturnal death syndrome (SUNDS). The reported Brugada syndrome causing mutation R1512W in cardiac sodium channel α subunit encoded gene SCN5A, without obvious loss of function of cardiac sodium channel in previous in vitro study, was identified...

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Identifiers

PMID: 27281089
DOI: 10.1097/MD.0000000000003836
PMCID: PMC4907667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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