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Article

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

Journal of neurology - 1 Jan 2013

Groffen Alexander J A, Klapwijk Thom, van Rootselaar Anne-Fleur, Groen Justus L, Tijssen Marina A J

Abstract excerpt

Paroxysmal dyskinesia (PxD) is a group of movement disorders characterized by recurrent episodes of involuntary movements. Familial paroxysmal kinesigenic dyskinesia (PKD) is caused by PRRT2 mutations, but a distinct etiology has been suggested for sporadic PKD. Here we describe a cohort of patients collected from our movement disorders outpatient clinic in the period 1996-2011. Fifteen patients with sporadic PxD...

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Identifiers

PMID: 22752065
DOI: 10.1007/s00415-012-6592-5
PMCID: PMC3535363

Genes

PRRT2

Provenance

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