Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and...

Brugada syndrome primarily associates with loss of sodium channel function. Previous studies showed features consistent with sodium current deficit in patients carrying desmosomal mutations, diagnosed with arrhythmogenic cardiomyopathy .

http://circ.ahajournals.org/content/early/2013/12/18/CIRCULATIONAHA.113.003077.short?rss=1