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

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...

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Detalles Bibliográficos
Autores principales: Groffen, Alexander J. A., Klapwijk, Thom, van Rootselaar, Anne-Fleur, Groen, Justus L., Tijssen, Marina A. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535363/
https://www.ncbi.nlm.nih.gov/pubmed/22752065
http://dx.doi.org/10.1007/s00415-012-6592-5

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