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Title:GENETIC BASIS OF CARDIAC NA CHANNELOPATHIES
DOI No:10.1142/9789812702234_0082
Source:ADVANCES IN ELECTROCARDIOLOGY 2004 (pp 312-318)
Author(s):NAOMASA MAKITA
This work is supported in part by the research grants 15090711 and 14370225 from the Ministry of Education, Culture, Sports, Science and Technology, Japan, and the research grants for cardiovascular diseases (13A-1) (16B-3) from the Ministry of Health, Labour and Welfare, Japan, and Japan Research Foundation for Clinical Pharmacology.

Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Sapporo 060-8638, Japan

MINORU HORIE
This work is supported in part by the research grants 15090711 and 14370225 from the Ministry of Education, Culture, Sports, Science and Technology, Japan, and the research grants for cardiovascular diseases (13A-1) (16B-3) from the Ministry of Health, Labour and Welfare, Japan, and Japan Research Foundation for Clinical Pharmacology.

Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Shiga, Japan 520-2192, Japan

Abstract:Mutations of cardiac Na channel gene SCN5A are responsible for lethal arrhythmic syndromes such as type 3 congenital long QT syndrome and Brugada syndrome. Recent genetic studies have revealed that SCN5A mutations are also responsible for conduction disturbance including atrial standstill, and some form of acquired LQTS, constituting a spectrum of disease entity termed cardiac Na channelopathies.
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