A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
Copyright policy )A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
molecular genetic studies have identi-fied 13 different forms of congenital LQTS caused bymutations in the genes of potassium, sodium, and calciumchannels or membrane adaptors. Recent studies also showedthat common candidate gene variants are associated with QTinterval duration in the general population.
Male, ERG1 Potassium Channel, DNA Mutational Analysis, Genetic Variation, Mexiletine, Polymorphism, Single Nucleotide, Risk Assessment, Severity of Illness Index, Ether-A-Go-Go Potassium Channels, NAV1.5 Voltage-Gated Sodium Channel, Pedigree, Electrocardiography, Long QT Syndrome, Gene Expression Regulation, Potassium Channels, Voltage-Gated, Seizures, Humans, Genetic Predisposition to Disease, Child, Follow-Up Studies
Male, ERG1 Potassium Channel, DNA Mutational Analysis, Genetic Variation, Mexiletine, Polymorphism, Single Nucleotide, Risk Assessment, Severity of Illness Index, Ether-A-Go-Go Potassium Channels, NAV1.5 Voltage-Gated Sodium Channel, Pedigree, Electrocardiography, Long QT Syndrome, Gene Expression Regulation, Potassium Channels, Voltage-Gated, Seizures, Humans, Genetic Predisposition to Disease, Child, Follow-Up Studies
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