Article
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2016
Lamperti Costanza, Invernizzi Federica, Solazzi Roberta, Freri Elena, Carella Francesco, Zeviani Massimo, Zibordi Federica, Fusco Carlo, Zorzi Giovanna, Granata Tiziana, Garavaglia Barbara, Nardocci Nardo
Abstract excerpt
BACKGROUND: Paroxysmal Kinesigenic Dyskinesia (PKD, OMIM 128200) is the most common type of autosomal dominant Paroxysmal Dyskinesias characterized by attacks of dystonia and choreoathetosis triggered by sudden movements. Recently PRRT2, encoding proline-rich transmembrane protein 2, has been described as the most frequent causative gene for PKD. METHODS: We studied the incidence of PRRT2 mutations in a cohort of...
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