Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
作者： Michael J. Ackerman , Ram K. Rohatgi , Arthur J. Moss , Babak Nazer , Rafik Tadros
DOI: 10.1161/CIRCEP.117.005282
关键词: Cardiology 、 Provocation test 、 Genetics 、 Loss function 、 KCNE2 、 Exome 、 Medicine 、 Long QT syndrome 、 Internal medicine
摘要: Background—Insight into type 6 long-QT syndrome (LQT6), stemming from mutations in the KCNE2-encoded voltage-gated channel β-subunit, is limited. We sought to further characterize its clinical phen...
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