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Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine

BMC Pediatrics Nov 22, 2019

Pan G, et al. - Twenty persons diagnosed with paroxysmal kinesigenic dyskinesia (PKD, most prevalent form of paroxysmal dyskinesia with brief, unilateral or bilateral attacks of dystonia and choreoathetosis triggered by abrupt movements) at Children’s Hospital of Fudan University between January 2011 and December 2015 were recruited in order to summarize clinical characteristics and PRRT2 mutations of pediatric PKD patients and discover the tolerability and impacts of morning draughts of oxcarbazepine (OXC). Multiple phenotypes were observed in pediatric PKD patients. In familial cases, PRRT2 mutations were prevalent. Moreover, it was noted that for pediatric PKD patients, OXC taken as morning draughts could be a treatment choice.
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