|
Sex, male
|
89/214 (41.6%)
|
|
Geographic origin
| |
|
European
|
154/298 (51.7%)
|
|
Asian
|
94/298 (31.5%)
|
|
American
|
44/298 (14.8%)
|
|
African
|
6/298 (2.0%)
|
|
Family History
| |
|
Number of families/cases
|
248/298
|
|
Consanguinity
|
90/192 (46.9%)
|
|
Age at disease onset
| |
|
Mean
|
13.4 (± 3.7) [4–30] in 298
|
|
< 18 years
|
271/298 (90.9%)
|
|
≥ 18 years
|
27/298 (9.1%)
|
|
Type of disease onset
| |
|
Seizures alone
|
149/248 (60.1%)
|
|
Motor
|
63/248 (25.4%)
|
|
Cognitive
|
36/248 (14.5%)
|
|
Myoclonus
| |
|
Absent
|
4/246 (1.6%)
|
|
Mean age at symptom onset
|
14.8 (± 3.1) [8–28] in 169
|
|
Mean time from disease onset
|
1.0 (± 2.0) [0–17] in 169
|
|
Cerebellar symptoms
| |
|
Absent
|
19/165 (11.5%)
|
|
Mean age at symptom onset
|
16.7 (± 3.4) [10.5–30] in 77
|
|
Mean time from disease onset
|
4.3 (± 3.4) [0–14] in 77
|
|
Visual symptoms
|
60/298 (20.1%)
|
|
Mean age at symptom onset
|
12.9 (± 2.3) [8.5–18] in 46
|
|
Mean time from disease onset
|
0.5 (± 1.0) [0–4] in 46
|
|
Cognitive decline
| |
|
Absent
|
11/257 (4.3%)
|
|
Mean age at symptom onset
|
15.3 (± 5.4) [4–45] in 176
|
|
Mean time from disease onset
|
2.3 (± 3.6) [0–26] in 176
|
|
Mutated Gene
| |
|
EPM2A
|
132/298 (44.3%)
|
|
Compound heterozygosity
|
29/132 (22.0%)
|
|
NHLRC1
|
166/298 (55.7%)
|
|
Compound heterozygosity
|
41/166 (24.7%)
|
|
Skin Biopsy
| |
|
Performed
|
138/298 (46.3%)
|
|
Positive
|
120/138 (86.9%)
|
|
Loss of autonomy
| |
|
Absent
|
33/177 (18.6%)
|
|
Mean age at onset
|
19.4 (± 6.2) [10–42] in 83
|
|
Mean time from disease onset
|
6.7 (± 5.1) [0.2–23] in 83
|
|
Dead at last follow up
|
70/272 (25.7%)
|
|
Mean age at death
|
21.6 (± 6.1) [14–59] in 70
|
|
Mean disease duration
|
8.2 (± 5.3) [2–40] in 70
|
