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. Author manuscript; available in PMC: 2011 Jan 1.
Published in final edited form as: Pacing Clin Electrophysiol. 2009 Oct 1;33(1):100–106. doi: 10.1111/j.1540-8159.2009.02563.x

Table 1.

Basic Clinical and Expressional Study Characteristics of Described Human Mutant HCN4 Channels

Mutation Patients
(pt)
Bradycardia
at Rest
Symptoms Chronotropic
Incompetence
Need for
Permanent
Pacemaker
Loss of Channel Function Due to
Trafficking
Defect
Change in
Biophysical Properties
573× 20 Single pt Yes Syncope Yes Yes No Yes
D553N21 Single pt Yes Syncope No Yes Yes No
S672R19 One family Yes No No No No Yes
G480R22 One family Yes No No No Yes Yes
A585V46 Three families Yes Presyncope No No Yes Yes