Table 1.
Family | Nationality | Total affected | Mean onset [range] | Myoclonus/CT | TCS | Focal Sz | References |
---|---|---|---|---|---|---|---|
1 | Australian/New Zealand of European ancestry | 55 | 18.6 y [4–59,60 y] | 55/55 (100%) | 8/55 (15%) | 2/55 (4%) | 2 |
2 | Italian | 2 | 15–25 y | 2/2 (100%) | 2/2 (100%) | 0/2 (0%) | |
3 | Italian | 4 | 2–18y | 4/4 (100%) | 4/4 (100%) | 2/4 (50%) | 12 |
4 | Italian | 11 | 22.3 y [12–49,50 y] | 11/11 (100%) | 11/11 (100%) | 3/11 (27%) | 4, 17 |
5 | Italian | 25 | 26.6 y [5–39,40 y] | 25/25 (100%) | 10/25 (40%) | 0/25 (0%) | 38 |
6 | Italian | 12 (3 studied) | 12 y [8–17,18 y] | 11/12 (91.6%) | 6/12 (50%) | 1/12 (8.3%) | 9, 39 |
7 | Italian | 4 | 22.75 y [10–35,36 y] | 4/4 (100%) | 3/4 (75%) | 0/4 (0%) | |
8 | Italian | 10 (6 studied) | 18.5 y [17–19,20 y] | 6/6 (100%) | 4/6 (66.6%) | 0/6 (0%) | 40 |
9 | Italian | 13 (11 studied) | 17 y [12–21,22 y] | 11/11 (100%) | 9/11 (81.1%) | 0/14 (0%) | 41 |
10 | Italian | 16 (14 studied) | 15.8 y [13–19,20 y] | 14/14 (100%) | 10/14 (71%) | 0/14 (0%) | 41 |
11 | Italian | 10 (5 studied) | 15.5 y [13–17,18 y] | 5/5 (100%) | 4/5 (80%) | 0/5 (0%) | 42 |
12 | Italian | 21 (17 studied) | 39.2 y [24–55,56 y] | 17/17 (100%) | 13/17 (76.4%) | 0/17(0%) | 43 |
13 | Italian | 3 | 17.7 y [12–22,23 y] | 3/3 (100%) | 1/3 (33%) | 0/3 (0%) | 42, 44 |
14 | Italian | 3 | 16.3 y [15–18 y] | 3/3 (100%) | 3/3 (100%) | 0/3 (0%) | 44, 45 |
15 | Italian | 4 | 30.3 y [18–48,49 y] | 4/4 (100%) | 3/4 (75%) | 2/4 (50%) | 17 |
16 | Iraqi of Sephardic Jewish ancestry | 15 (10 studied) | 21 y [12–31,32 y] | 10/10 (100%) | 4/10 (40%) | 2/10 (20%) | |
17 | Israeli of Sephardic Jewish ancestry | 2 | 21 y [21 y] | 2/2 (100%) | 2/2 (100%) | 0/2 (0%) | |
18 | South African of European ancestry | 24 (15 studied) | 15.8 y [11–19,20 y] | 15/15 (100%) | 7/15 (47%) | 1/15 (7%) | 46 |
19 | French/ Spanish | 13 | 41 y [30–59,60 y] | 13/13 (100%) | 8/13 (62%) | 0/13 (0%) | 13, 47 |
20 | French | 7 (2 studied) | 20 y (n = 1) Childhood (n = 1) | 2/2 (100%) | 1/2 (50%) | 0/2 (0%) | 9 |
21 | Syrian | 1 | 20 y | 1/1 (100%) | 1/1 (100%) | 0/1 (0%) | |
22 | Italian | 11 (10 studied) | 25.1 y [14–39,40 y] | 9/10 (90%)a | 4/10 (40%) | 1/10 (10%) |
CT cortical tremor, Focal Sz focal seizures, TCS tonic-clonic seizures, y years, n number of individuals
aOne family member last evaluated at 9 years of age