Article
Copy number variations of SCN5A in Brugada syndrome.
Heart rhythm - 1 Aug 2018
Sonoda Keiko, Ohno Seiko, Ozawa Junichi, Hayano Mamoru, Hattori Tetsuhisa, Kobori Atsushi, Yahata Mitsuhiko, Aburadani Isao, Watanabe Seiichi, Matsumoto Yuichi, Makiyama Takeru, Horie Minoru
Abstract excerpt
BACKGROUND: Loss-of-function mutations in SCN5A are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated with several inherited arrhythmia syndromes. OBJECTIVE: The purpose of this study was to investigate SCN5A CNVs among BrS probands. METHODS: The study cohort consisted of 151 BrS probands who were symptomatic or had a family history of BrS,...
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