title: Paroxysmal kinesigenic dyskinesia in a patient with aPRRT2mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl.
abstract: Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in thePRRT2gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and aPRRT2mutation.
authors.affiliation: Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Seo
authors.affiliation: Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Su Jeong
authors.initials: SJ
authors.lastname: You
keywords: Epilepsy; Paroxysmal kinesigenic dyskinesia; Proline-rich transmembrane protein-2; Seizure