PRRT2 mutations in Japanese Patients with Benign Infantile Epilepsy and Paroxysmal Kinesigenic Dyskinesia

Watanabe et al. reported focal epilepsy of infants with favorable outcome [1,2], and proposed an epilepsy syndrome called benign partial epilepsy in infancy [3]. Benign partial epilepsy in infancy was renamed benign infantile epilepsy (BIE) or benign familial infantile epilepsy (BFIE), if familial, and it has been described in the international classification of epilepsy [4]. Additionally, an association of BIE with paroxysmal kinesigenic dyskinesia (PKD) has been reported and called infantile convulsions and choreoathetosis [5].

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