Article
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.
PloS one - 1 Jan 2013
Liu Hui, Chatel Stéphanie, Simard Christophe, Syam Ninda, Salle Laurent, Probst Vincent, Morel Julie, Millat Gilles, Lopez Michel, Abriel Hugues, Schott Jean-Jacques, Guinamard Romain, Bouvagnet Patrice
Abstract excerpt
Brugada syndrome (BrS) is a condition defined by ST-segment alteration in right precordial leads and a risk of sudden death. Because BrS is often associated with right bundle branch block and the TRPM4 gene is involved in conduction blocks, we screened TRPM4 for anomalies in BrS cases. The DNA of 248 BrS cases with no SCN5A mutations were screened for TRPM4 mutations. Among this cohort, 20 patients had 11 TRPM4...
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