title: A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. yyoshika@fukuoka-u.ac.jp
authors.forename: Yukako
authors.initials: Y
authors.lastname: Yoshikane
authors.forename: Masao
authors.initials: M
authors.lastname: Yoshinaga
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Hamamoto
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005500:Follow-Up Studies; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008801:Mexiletine / Q000627:therapeutic use; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*; D018570:Risk Assessment; D012640:Seizures / Q000175:diagnosis / Q000209:etiology; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C489622:KCNE1 protein, human; C000606913:KCNH2 protein, human; D062554:NAV1.5 Voltage-Gated Sodium Channel; D024642:Potassium Channels, Voltage-Gated; C568320:SCN5A protein, human; D008801:Mexiletine