RESUMO
Objective To study the clinical and genetic features of familial paroxysmal kinesigenic dyskinesia (PKD). Methods The clinical information of 14 family members in one pedigree, including 2 patients (one treated in hos?pital, the other not treated) were analyzed and the response to treatment and prediction were followed up. DNA was ex?tracted from peripheral blood samples, and then screened for PRRT2 mutations. Results There were two male patients in the pure PKD pedigree, Prevalence rate was 14.3%,One of the PKD patients showed good response to carbamazepine as well as lamotrigine whereas other patients recovered without treatment. We detected a nonsense mutation c.797G>A (p.266R>Q) in PRRT2 gene in three family members. One affected member harboring PRRT2 mutation resulted from the incomplete penetrance of the disease,PKD and polycystic kidney disease coexist in the pedigree which showed autoso?mal dominant inheritance with incomplete penetrance and anticipation. Conclusions The curative effect of antiepileptic drugs to purely familial PKD is related to mutations and clinical features;Treatments should be decided based upon clini?cal features and mutations.