LQTS type 2 (LQTS2) is caused by mutations in the KCNH2 gene, leading to a reduction of the rapidly activating delayed rectifier K+ current and loss of human ...
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LQTS type 2 (LQTS2) is caused by mutations in the KCNH2 gene, leading to a reduction of the rapidly activating delayed rectifier K+ current and loss of human ...
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Mutations in the KCNH2 gene encoding the HERG potassium channel cause 30% of long-QT syndrome, and binding to this channel leads to drug-induced QT ... Skip main navigation · Abstract · Methods · Results
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29 thg 7, 2019 · LQTS is a familial cardiovascular disorder characterised by prolongation of the QT interval on ECG and risk of sudden death. Table 1 shows some ...
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4 thg 1, 2021 · The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1.
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We identified the KCNH2-H562R mutation in a 65-year-old man with a prolonged QTc interval who had experienced an episode of torsade de pointes. Subsequently, a ...
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This review briefly discusses the major molecular mechanisms underlying LQTS type 2 (LQT2), which is caused by loss-of-function (LOF) mutations in the KCNH2 ...
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17 thg 8, 2020 · This monograph discusses an approach to the results ofgenetic testing for the three major genes associated with congenital long QT syndrome ...
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Long QT syndrome (LQTS) presents two clinical phenotypes, congenital and acquired forms. This study aims to evaluate the genetic contribution of a KCNH2 ...
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Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes).
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Although these clinical characteristics might suggest type 3 LQTS, a genetic analysis identified the G604S-KCNH2 mutation (type 2 LQTS). Because mismatches ...
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Screening for mutations in the KCNQ1, KCNH2, SCN5A and KCNE1 genes for LQT1, LQT2, LQT3 and LQT5 variants of long QT syndrome (LQTS) revealed a c.529G>T (p.
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1 thg 7, 2020 · Long QT syndrome (LQTS), which is caused by an ion channel‐related gene mutation, is a malignant heart disease with a clinical course of a ...
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Congenital long QT syndrome (LQTS) is characterised by heart rate corrected QT ... variants in the potassium channel genes KCNQ1 and KCNH2, respectively.
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