LAUSR

Paroxysmal dyskinesia (PD) refers to a group of heterogeneous syndromes characterized by recurrent attacks of dystonia and/or chorea, without loss of consciousness. 1 PD are classi fi ed by trig-gers as paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exertion-induced dyskinesia (PED). An increasing number of genes have been implicated in their pathogenesis. 1 Although defects in the PRRT2 gene are the main cause of PKD (77% – 93% familial; 21% – 45% sporadic), 2 TMEM151A variants have been recently identi fi ed in both familial and isolated PRRT2 -negative PKD patients with a frequency ranging from 4,8% to 6,9%. 2 – 6 However, the full clinical spectrum of this condition and the exact frequency of new allelic variants in European population have yet to be de fi ned. Sanger