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Additional Evidence Implicating GPD1L in the Pathogenesis of Brugada Syndrome in A Large Multigenerational Family

2022-09-20 cardiovascular medicine Title + abstract only
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BackgroundBrugada Syndrome (BrS) is an inherited arrhythmia syndrome in which mutations in SCN5A account for 20% of cases. Mutations in other ion channels or channel-modifying genes may account for an additional 10% of cases, though recent analysis has suggested that SCN5A should be regarded as the sole monogenic cause of BrS. ObjectiveWe sought to re-assess the genetic underpinnings of BrS in a large mutligenerational family with a putative GPD1L-A280V mutation. MethodsFine linkage mapping wa...

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