Article
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Neurology - 10 Jul 2012
Méneret Aurélie, Grabli David, Depienne Christel, Gaudebout Cécile, Picard Fabienne, Dürr Alexandra, Lagroua Isabelle, Bouteiller Delphine, Mignot Cyril, Doummar Diane, Anheim Mathieu, Tranchant Christine, Burbaud Pierre, Jedynak Charles Pierre, Gras Domitille, Steschenko Dominique, Devos David, Billette de Villemeur Thierry, Vidailhet Marie, Brice Alexis, Roze Emmanuel
Abstract excerpt
OBJECTIVE: Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements. PKD can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis (ICCA) syndrome. Mutations in the PRRT2 gene were recently identified in patients with PKD and ICCA. We studied the prevalence of PRRT2 mutations and...
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