The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.
Wang
Q
Q
Department of Molecular Cardiology, Lerner Research Institute, and Center for Cardiovascular Genetics, The Cleveland Clinic Foundation, OH 44190, USA. wangq2@ccf.org
Chen
S
S
Chen
Q
Q
Wan
X
X
Shen
J
J
Hoeltge
G A
GA
Timur
A A
AA
Keating
M T
MT
Kirsch
G E
GE
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
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels