Mutations responsible for periodic paralysis (Venance et al., 2006; Jurkat-Rott et al., 2010; Statland and Barohn, 2013; Cannon, 2015; Sansone, 2019)
| Type of periodic paralysis . | Causative ion channel mutations . | Type of mutation . |
|---|---|---|
| Hyperkalemic periodic paralysis (hyperKPP) | SCN4A (Nav1.4) | Gain of function that increases NaP |
| Hypokalemic periodic paralysis (hypoKPP) | SCN4A (Nav1.4) and CACNA1S (Cav1.1) | Gain of function that creates a gating pore current |
| Andersen–Tawil syndrome | KCNJ2 (Kir2.1) | Loss of function that decreases the number of functional channels |
| Type of periodic paralysis . | Causative ion channel mutations . | Type of mutation . |
|---|---|---|
| Hyperkalemic periodic paralysis (hyperKPP) | SCN4A (Nav1.4) | Gain of function that increases NaP |
| Hypokalemic periodic paralysis (hypoKPP) | SCN4A (Nav1.4) and CACNA1S (Cav1.1) | Gain of function that creates a gating pore current |
| Andersen–Tawil syndrome | KCNJ2 (Kir2.1) | Loss of function that decreases the number of functional channels |