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J-GLOBAL ID：201102251401840845   Reference number：11A0527306

Identification of Six Novel SCN5A Mutations in Japanese Patients With Brugada Syndrome

Brugada症候群の日本人患者における6つの新しいSCN5A変異の同定

Author (7)： NAKAJIMA Tadashi (Dep. of Medicine and Biological Sci., Gunma Univ. Graduate School of Medicine) ,  KANEKO Yoshiaki (Dep. of Medicine and Biological Sci., Gunma Univ. Graduate School of Medicine) ,  SAITO Akihiro (Dep. of Medicine and Biological Sci., Gunma Univ. Graduate School of Medicine) ,  IRIE Tadanobu (Dep. of Medicine and Biological Sci., Gunma Univ. Graduate School of Medicine) ,  TANGE Shoichi (Cardiovascular Dep., Maebashi Red Cross Hospital) ,  ISO Tatsuya (Dep. of Medicine and Biological Sci., Gunma Univ. Graduate School of Medicine) ,  KURABAYASHI Masahiko (Dep. of Medicine and Biological Sci., Gunma Univ. Graduate School of Medicine)
Material： International Heart Journal  (Int Heart J)
Volume： 52  Issue： 1  Page： 27-31 (J-STAGE)  Publication year： 2011 
JST Material Number： Z0752A  ISSN： 1349-2365  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *Brugada Syndrome ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Clinical medicine on cardiovascular system in general  (GJ01030V)

Reference (32)：

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• 3. London B, Michalec M, Mehdi H, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 2007; 116: 2260-8.
• 4. Van Norstrand DW, Valdivia CR, Tester DJ, et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 2007; 116: 2253-9.
• 5. Antzelevitch C, Pollevick GD, Cordeiro JM, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 2007; 115: 442-9.

Terms in the title (6)： Brugada症候群 ,  日本人 ,  患者 ,  SCN5A ,  変異 ,  同定