Table 1.
Clinical features and genotypes of the patient and family
| Subject | PRRT2 mutation | Protein alteration | Age/Gender | Age at onset | Attack frequency | Duration of attack | Triggers | Affected limbs | Response to anticonvulsant |
|---|---|---|---|---|---|---|---|---|---|
| II-2 |
c.186-187delGC |
P63Qfs*70 |
45/F |
10 |
4-5/d |
<1 min |
SM |
Right/left/bilateral |
Carbamazepine |
| I-1 |
c.186-187delGC |
P63Qfs*70 |
76/M |
No |
U |
U |
U |
U |
No |
| I-2 |
No |
No |
68/F |
- |
- |
- |
- |
- |
- |
| II-1 |
NA |
NA |
44/M |
- |
- |
- |
- |
- |
- |
| II-3 |
No |
No |
41/M |
- |
- |
- |
- |
- |
- |
| II-4 |
NA |
NA |
40/F |
- |
- |
- |
- |
- |
- |
| III-2 |
No |
No |
13/M |
- |
- |
- |
- |
- |
- |
| III-1 | No | No | 18/F | - | - | - | - | - | - |
F: female; M: male; U: unknown; SM: sudden movement; NA: not available.