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Brugada综合征(BS)的诊断基于临床表现。SCN5A编码于钠离子通道的α亚单位,是目前所知的唯一的Brugada综合征的致病基因[1]。6年前发现的第2个致病基因位点,已于去年确定了第二个致病基因(GPD1L)。
The diagnosis of Brugada syndrome (BS) is based on clinical manifestations. SCN5A encodes the alpha subunit of sodium channels, and is the only known causative gene of Brugada syndrome [1]. The second causative gene locus discovered 6 years ago identified the second causative gene (GPD1L) last year.