A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1

MeSH terms

• Child
• DNA Mutational Analysis
• ERG1 Potassium Channel
• Electrocardiography
• Ether-A-Go-Go Potassium Channels / genetics*
• Follow-Up Studies
• Gene Expression Regulation
• Genetic Predisposition to Disease*
• Genetic Variation
• Humans
• Long QT Syndrome / diagnosis
• Long QT Syndrome / drug therapy
• Long QT Syndrome / genetics*
• Male
• Mexiletine / therapeutic use
• NAV1.5 Voltage-Gated Sodium Channel / genetics*
• Pedigree
• Polymorphism, Single Nucleotide
• Potassium Channels, Voltage-Gated / genetics*
• Risk Assessment
• Seizures / diagnosis
• Seizures / etiology
• Severity of Illness Index
• Treatment Outcome