Article
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.
Heart rhythm - 1 Jun 2007
Koopmann Tamara T, Beekman Leander, Alders Marielle, Meregalli Paola G, Mannens Marcel M A M, Moorman Antoon F M, Wilde Arthur A M, Bezzina Connie R
Abstract excerpt
BACKGROUND: The Brugada syndrome is an inherited cardiac electrical disorder associated with a high incidence of life-threatening arrhythmias. Screening for mutations in the cardiac Na+ channel-encoding gene SCN5A uncovers a mutation in approximately 20% of Brugada syndrome cases. Genetic heterogeneity and/or undetected SCN5A mutations, such as exon duplications and deletions, could be involved in the remaining...
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