PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population

Article Article scientifique Article PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population eng 2012 author Méneret Aurélie author Grabli David author Depienne Christel author Gaudebout Cécile author Picard Fabienne 123049 author Dürr Alexandra author Lagroua Isabelle author Bouteiller Delphine author Mignot Cyril 701896 author Doummar Diane author Anheim Mathieu author Tranchant Christine author Burbaud Pierre author Jedynak Charles Pierre author Gras Domitille author Steschenko Dominique author Devos David author Billette de Villemeur Thierry author Vidailhet Marie author Brice Alexis author Roze Emmanuel 170-174 10.1212/WNL.0b013e31825f06c3 22744660 0028-3878 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 characteristics of the patients in a European population of patients with PKD and ICCA. Adult Age of Onset Chorea/diagnosis/genetics Dyskinesias/diagnosis/genetics Epilepsy, Benign Neonatal/diagnosis/genetics European Continental Ancestry Group/genetics Humans Membrane Proteins/genetics Mutation/genetics Nerve Tissue Proteins/genetics Pedigree Seizures/diagnosis/genetics Syndrome Dewey 616.8 61 Département des neurosciences cliniques 226 false 119 Epilepsie et Chirurgie 149 Neurology 79 2 2844e803-562c-40d3-b314-9984136e88cc Article (Published version) Restricted Neurology-2012-Méneret-170-4.pdf 293661 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques

Title	Published in	Year	Views	Downloads

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy	Journal of Medical Genetics	2016	317	2
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population	Neurology	2012	806	0

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Mignot, Cyril