Table 3. Comparison of PRRT2-positive and -negative paroxysmal kinesigenic dyskinesia.
| Mutation-positive (n=18) | Mutation-negative (n=22) | p-value | |
|---|---|---|---|
| Sex (male:female) | 11:7 | 20:2 | 0.053 |
| Age of symptom onset (years, mean±SD) | 10.6±2.80 | 10.2±3.97 | 0.713 |
| Family history (n, %) | 10 (55.6) | 5 (22.7) | 0.050 |
| Presenting symptoms (n, %) | 0.961 | ||
| Dystonia only | 11 (61.1) | 14 (63.6) | |
| Chorea only | 5 (27.8) | 5 (22.7) | |
| Dystonia+chorea | 1 (5.6) | 1 (4.5) | |
| Others | 1 (5.6) | 2 (9.1) | |
| Localization (n, %) | 0.009* | ||
| Unilateral | 4 (22.2) | 13 (59.1) | |
| Bilateral | 6 (33.3) | 7 (31.8) | |
| Alternating | 5 (27.8) | 0 (0.0) | |
| Unknown | 3 (16.7) | 2 (9.1) | |
| Facial involvement (n, %) | 1 (5.6) | 0 (0.0) | 0.405 |
| Prodromal symptoms (n, %) | 8 (44.4) | 6 (27.3) | 0.327 |
| Other aggravating factors (n, %) | 5 (27.8) | 9 (40.9) | 0.510 |
| Combined medical problem† (n, %) | 8 (44.4) | 7 (31.8) | 0.517 |
| Febrile seizure | 3 (16.7) | 1 (4.5) | 0.310 |
| Benign infantile convulsions | 4 (23.5) | 1 (4.5) | 0.155 |
| Other epilepsies | 0 (0.0) | 1 (4.5) | 1.000 |
| Others | 1 (5.9) | 5 (22.7) | 0.197 |
| Response to treatment‡ (n, %) | 0.358 | ||
| Treatment given | 17 (100.0) | 17 (100.0) | |
| Symptom-free | 13 (76.5) | 9 (52.9) | |
| Markedly improved | 3 (17.6) | 5 (29.4) | |
| Minimally improved | 1 (5.9) | 1 (5.9) | |
| Aggravated | 0 (0.0) | 2 (11.8) |
*p<0.05, †Some patients have two or more comorbidities, ‡All patients in the PRRT2-positive group received oxcarbazepine only. In the PRRT2-negative negative group, 18 patients took oxcarbazepine only, other 2 recived oxcarbazepine plus valproate.