Table 1 Clinical details and genetic results for subjects with paroxysmal dyskinesias
From: Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
Subject (Diagnosis) | PRRT2 Mutation | Age/Gender | Race | Age at onset(y) | Family history | Attack frequency | Attack duration | Triggers | Involuntary movements | Anatomical distribution | Response to anticonvulsants |
|---|---|---|---|---|---|---|---|---|---|---|---|
Family A, II-1 (PKD) | NA | NA/M | African-American | 10y | Yes | < 100/day | 10-20 sec | SM | D, C | A, L | carbamazepine(+), phenytoin (+) |
Family A, III-1 (PKD) | NA | 28y/F | African-American | 12y | Yes | 20-30/day | 10-40 sec | SM | D, C | F, A, L | phenytoin (+) |
Family A, III-2 (PKD) | NA | 25y/F | African-American | 10y | Yes | 50-75/day | 10-15 sec | SM | D, C | A, L | carbamazepine (+) |
Family A, III-3 (PKD) | c.776dupG | 22y/F | African-American | 10y | Yes | 30-40/day | 10-15 sec | SM | D, C | F, A, L | carbamazepine(+), phenytoin(+) |
Family A, III-4 (PKD) | c.776dupG | 18y/F | African-American | 13y | Yes | 20-30/day | 10-60 sec | SM | D, C | F, A, L | carbamazepine(+) |
Family B (PKD) | c.649dupC | 30y/M | African-American | 12y | Yes | 50/day | 10-60 sec | SM | D, C | F, A | phenytoin (+) |
Case 7 (PKD) | c.649dupC | 27y/M | Caucasian-Thai | 21y | *Yes | 3-6/day | < 10 sec | SM, S | D | F, A, L | carbamazepine (+) |
Case 8 (PED) | None | 29y/F | Caucasian | < 28y | No | < 1/day | 2-4 hrs | Intense exercise | D | F, A, L | clonazepam (±) |
Case 9 (PKD) | None | 18y/M | Caucasian | 14y | No | 5-8/day | < 15 sec | SM | D | F, A, L | carbamazepine (+) |
Case 10 (ICCA) | None | 19mo/M | Caucasian | 7 m | No | >100/day | 40-50 sec | SM | D, C, A | F, A, L | carbamazepine (+) |
Case 11 (PKD) | None | 41y/F | Caucasian | < 33y | Yes | 20-25/mo | 2-30 min | SM, S | D | F, A, L | piracetam (±) clonazepam (±) |
Case 12 (PKD) | None | 20y/M | Caucasian | 3y | No | 6-7/day | 5-60 sec | SM, S | D, C, A | F, A, L | carbamazepine (+) |
Case 13 (PKD) | None | 18y/M | Caucasian | 15y | Yes | 2-5/day | 5-6 sec | SM | D | F, A, L | carbamazepine (+) |
Case 14 (PKD) | None | 18y/F | Caucasian | 15y | No | 3-4/day | < 10 sec | SM, S | D, C, A | F, A, L | carbamazepine (+) |
Case 15 (PKD) | None | 14y/M | Vietnamese | 12y | No | 10/day | 15-60 sec | S | D | A, L | acetazolamide (+) |
Case 16 (PKD) | None | 26y/F | Caucasian | 16y | No | 30/day | 20-30 sec | SM | D | A | phenytoin (+) |
Case 17 (PNKD) | None | 6y/F | Caucasian | 6 m | Yes | 2-10/mo | 3-60 min | Fatigue, sleep deprivation | D | A, L | NA |