2019 Volume 65 Issue 1 Pages 95-98
Mutations in the PRRT2 gene have been identified as a major cause of benign infantile epilepsy (BIE) and/or paroxysmal kinesigenic dyskinesia (PKD). We identified the PRRT2 common mutation (c.640_641insC) in a 13-year-old boy who was initially suspected of focal epilepsy. He visited our hospital due to a one-year history of hyperkinetic movements, dystonic movements triggered by sudden voluntary movements, and a past history of BIE. He had experienced on-and-off attacks of involuntary dystonic movements that lasted from 10 s to 5 min, and involved the limbs, trunk, and occasionally the face. In our department, he was clinically diagnosed with PKD without family history, and a PRRT2 mutation was found. His condition was characterized by a longer duration of attacks and good efficacy of low dose carbamazepine. In this report, we describe how the correct diagnosis in this case had implications for treatment and prognosis.
