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Sodium current disorders: Geneticist's view

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机构: [a]Molecular Cardiology, IRCCS, Fondazione Salvatore Maugeri, Via Maugeri 10, Pavia, 27100, Italy [b]Department of Molecular Medicine, University of Pavia, Via Maugeri 10, Pavia, 27100, Italy [c]Department of Cardiology, Beijing An Zhen Hospital, Capital Medical University, 2 Anzhen Road, Beijing, 100029, China [d]Cardiovascular Genetics, Leon Charney Division of Cardiology, New York University, 522 First Avenue, New York, NY 10016, United States
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关键词: Genetics Ion channel Sodium

摘要:
Cardiac sodium channel is responsible for pulse generation and conduction in the heart. Rapid progression in molecular genetics has greatly enlarged the field of sodium current disorders. Identification of the underlying genetic variants has improved understanding of the pathophysiologic mechanism. Genetic tests allow physicians to diagnose concealed/borderline cases, perform risk stratification, and select gene-specific and/or mutation-specific therapies. Appropriate selection of the candidates for genetic screening is essential to optimizing the cost/benefit ratio. © 2014 Elsevier Inc.

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