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/.