Table 1

Major clinical features in families/cases with identified PRRT2 mutations

SubjectMain phenotypeAccompanied featuresTrigger of PDMutation DNAAmino acid
Family AICCAAx, Exc.649dupCp.R217Pfs*7
Family BICCAAx, Exc.904dupGp.D302Gfs*38
Family CPNKD-likeMigraineAh, Ft, Axc.649dupCp.R217Pfs*7
Family EPKDSmc.649dupCp.R217Pfs*7
Family FPKDMigraine, FCSmc.649dupCp.R217Pfs*7
Case 5PKDFCSmc.1011C→Tp.G337G
Case 13PKDSmc.913G→Ap.G305R
Case 14PEDExc.649dupCp.R217Pfs*7
Case 15PEDEx, Stc.649dupCp.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.