Genetic and clinical features of the patients with PKD/IC harboring PRRT2 mutations.

Abbreviation: M = male; F = female; y = years; AS = apparently sporadic; SM = sudden movements; IM = intention to move; S = startle; s = stress; D = dystonia; C = choreoathetosis; CBZ = carbamazepine; m = month; w = week; PHT = phenytoin; OXC = oxcarbazepine; IC = infantile convulsions.aThese patients have novel mutations.