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 | - | - | - | - | - | - |