Abstract:
PURPOSE OF REVIEW:The Brugada syndrome has been investigated in depth since its description in 1992 both on a clinical and on a basic research level. Since the discovery of the first genetic defect in 1998, several genes have been subsequently identified. However, to date all these genes together explain only 30% of the cases, indicating that there is still an important amount of work to be done to totally unravel the genetic basis of this lethal disease. In the present study, we will focus on recent achievements in the genetic basis of this disease. RECENT FINDINGS:In 2009, several additional genetic mutations have been associated with the disease. Additionally, a common variant has been described as a genetic modulator of Brugada syndrome among carriers of a SCN5A mutation. SUMMARY:The number of scientific publications dealing with the syndrome has continued to increase substantially in recent years. New polymorphisms, mutations and genes associated with the disease have been described. However, despite the advances, knowledge of the genetic determinants of the Brugada syndrome remains limited.
journal_name
Curr Opin Cardioljournal_title
Current opinion in cardiologyauthors
Campuzano O,Brugada R,Iglesias Adoi
10.1097/HCO.0b013e32833846eesubject
Has Abstractpub_date
2010-05-01 00:00:00pages
210-5issue
3eissn
0268-4705issn
1531-7080journal_volume
25pub_type
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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journal_title:Current opinion in cardiology
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