Major clinical features in families/cases with identified PRRT2 mutations
| Subject | Main phenotype | Accompanied features | Trigger of PD | Mutation DNA | Amino acid |
| Family A | ICCA | – | Ax, Ex | c.649dupC | p.R217Pfs*7 |
| Family B | ICCA | – | Ax, Ex | c.904dupG | p.D302Gfs*38 |
| Family C | PNKD-like | Migraine | Ah, Ft, Ax | c.649dupC | p.R217Pfs*7 |
| Family E | PKD | – | Sm | c.649dupC | p.R217Pfs*7 |
| Family F | PKD | Migraine, FC | Sm | c.649dupC | p.R217Pfs*7 |
| Case 5 | PKD | FC | Sm | c.1011C→T | p.G337G |
| Case 13 | PKD | – | Sm | c.913G→A | p.G305R |
| Case 14 | PED | – | Ex | c.649dupC | p.R217Pfs*7 |
| Case 15 | PED | – | Ex, St | c.649dupC | p.R217Pfs*7 |
Ax, anxiety; Ex, exercise; FC, febrile convulsions; Ft, fatigue; ICCA, infantile convulsions with paroxysmal choreoathetosis; PD, paroxysmal dyskinesia; PED, paroxysmal exercise-induced dyskinesia; PKD, paroxysmal kinesigenic dyskinesia; PNKD, paroxysmal non-kinesigenic dyskinesia; Sm, sudden movement; St, startle.