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. 2014 Dec 31;2014(4):449–463. doi: 10.5339/gcsp.2014.58

Table 1.

Mutations in cardiac ion channel genes and clinical consequences.

Current Channel Gene Disease Number of mutations
I Na Nav1.5 SCN5A LQT3 87
BrS 374
CCD 21
SSS 9
I to Kv4.2/4.3 KCND2/3 BrS 2
I Ca Cav1.2 CACNA1C LQT8 2
SQTS/BrS 10
ERS 1
CACNB2 SQTS/BrS 6
IVF/ERS 3
CACNA2D1 BrS 2
ERV 1
I Ks KvLQT1 KCNQ1 LQT1 246
SQTS 2
FAF 3
minK KCNE1 LQT5 69
FAF 16
I Kr hERG KCNH2 LQT2 297
SQTS 1
BrS 2
MiRPI KCNE2 LQT6 16
I K1 Kir2.1 KCNJ2 LQT7 29
SQTS 2
FAF 2

Abbreviations: LQT – long QT syndrome, BrS – Brugada syndrome, CCD – cardiac conduction disease, SSS – sick sinus syndrome, SQTS – short QT syndrome, FAF – familiar atrial fibrillation, ERS – early repolarization syndrome, IVF – idiopathic ventricular fibrillation. Helpful databases were PubMed/Medline, http://www.fsm.it/cardmoc/ and http://www.qtsyndrome.ch/.