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- W1486358102 abstract "We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity of this new mutation, displaying a 2-fold reduction in protein expression and current density due to a maturation/trafficking-deficient mechanism. The patient's phenotype can be fully explained by this observation. This study illustrates the importance of performing genetic analyses and mutation characterization when there is a suspicion of congenital LQTS. Identifying mutations in the PAS domain or other domains of the hERG1 channel and understanding their effect may provide more focused and mutation-specific risk assessment in this population." @default.
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- W1486358102 date "2011-04-01" @default.
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- W1486358102 title "Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel" @default.
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- W1486358102 doi "https://doi.org/10.1111/j.1542-474x.2011.00419.x" @default.
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