Takotsubo cardiomyopathy and congenital long QT syndrome in a patient with a novel duplication in the Per-Arnt-Sim (PAS) domain of hERG1.
Grilo
Liliana Sintra
LS
Department of Clinical Research, University of Bern, Bern, Switzerland.
Pruvot
Etienne
E
Grobéty
Michel
M
Castella
Vincent
V
Fellmann
Florence
F
Abriel
Hugues
H
D000328:Adult; D000072237:ERG1 Potassium Channel; D004452:Echocardiography; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D008133:Long QT Syndrome / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013575:Syncope / Q000235:genetics / Q000503:physiopathology; D054549:Takotsubo Cardiomyopathy / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D016171:Torsades de Pointes / Q000235:genetics / Q000503:physiopathology
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C116037:PAS domain kinases; D017346:Protein Serine-Threonine Kinases