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Document type:
journal article 
Author(s):
Watanabe, H; Koopmann, TT; Le Scouarnec, S; Yang, T; Ingram, CR; Schott, JJ; Demolombe, S; Probst, V; Anselme, F; Escande, D; Wiesfeld, AC; Pfeufer, A; Kääb, S; Wichmann, HE; Hasdemir, C; Aizawa, Y; Wilde, AA; Roden, DM; Bezzina, CR 
Title:
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 
Abstract:
Brugada syndrome is a genetic disease associated with sudden cardiac death that is characterized by ventricular fibrillation and right precordial ST segment elevation on ECG. Loss-of-function mutations in SCN5A, which encodes the predominant cardiac sodium channel alpha subunit NaV1.5, can cause Brugada syndrome and cardiac conduction disease. However, SCN5A mutations are not detected in the majority of patients with these syndromes, suggesting that other genes can cause or modify presentation o...    »
 
Journal title abbreviation:
J Clin Invest 
Year:
2008 
Journal volume:
118 
Journal issue:
Pages contribution:
2260-8 
Language:
eng 
Print-ISSN:
0021-9738 
TUM Institution:
Institut für Humangenetik