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

Méneret, Aurélie
Grabli, David
Depienne, Christel
Gaudebout, Cécile
Dürr, Alexandra
Lagroua, Isabelle
Bouteiller, Delphine
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Published in Neurology. 2012, vol. 79, no. 2, p. 170-4
Abstract 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.
Keywords AdultAge of OnsetChorea/diagnosis/geneticsDyskinesias/diagnosis/geneticsEpilepsy, Benign Neonatal/diagnosis/geneticsEuropean Continental Ancestry Group/geneticsHumansMembrane Proteins/geneticsMutation/geneticsNerve Tissue Proteins/geneticsPedigreeSeizures/diagnosis/geneticsSyndrome
PMID: 22744660
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Research group Epilepsie et Chirurgie (149)
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MÉNERET, Aurélie et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. In: Neurology, 2012, vol. 79, n° 2, p. 170-4. doi: 10.1212/WNL.0b013e31825f06c3 https://archive-ouverte.unige.ch/unige:32814

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Deposited on : 2014-01-06

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