Abstracts

Rationale: Mutations in PRRT2 genes have been identified in patients with benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. However, the rate of PRRT2 mutations in Japanese children with benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia has not been determined. Methods: We explored PRRT2 mutations in Japanese children who had had unprovoked infantile seizures or convulsion with mild gastroenteritis. The probands included 16 children with benign infantile epilepsy, 6 children with convulsions with mild gastroenteritis, and 2 siblings with benign early infantile epilepsy. In addition, we recruited samples from family members when PRRT2 mutation was identified in the proband. Statistical analyses were performed to identify differences in probands with benign infantile epilepsy according to the presence or absence of PRRT2 mutation. Results: Among a total of 24 probands, PRRT2 mutations was identified only in 6 probands with benign infantile epilepsy. A common insertion mutation, c.649_650insC, was found in 5 families and a novel missense mutation, c.981C>G (I327M), in one. The family history of paroxysmal kinesigenic dyskinesia was more common in probands with PRRT2 mutations than in those without mutations. Conclusions: Our study revealed that PRRT2 mutations are common in Japanese patients with benign infantile epilepsy as well as Han Chinese or European-Caucasian patients.