title: The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.
authors.affiliation: Department of Molecular Cardiology, Lerner Research Institute, and Center for Cardiovascular Genetics, The Cleveland Clinic Foundation, OH 44190, USA. wangq2@ccf.org
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.forename: S
authors.initials: S
authors.lastname: Chen
authors.forename: Q
authors.initials: Q
authors.lastname: Chen
authors.forename: X
authors.initials: X
authors.lastname: Wan
authors.forename: J
authors.initials: J
authors.lastname: Shen
authors.forename: G A
authors.initials: GA
authors.lastname: Hoeltge
authors.forename: A A
authors.initials: AA
authors.lastname: Timur
authors.forename: M T
authors.initials: MT
authors.lastname: Keating
authors.forename: G E
authors.initials: GE
authors.lastname: Kirsch
mesh_terms: D000818:Animals; D002460:Cell Line; D002478:Cells, Cultured; D004553:Electric Conductivity; D005787:Gene Frequency; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel; D018408:Patch-Clamp Techniques; D018807:Polymorphism, Single-Stranded Conformational; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels