Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis‐characterized as paroxysmal dystonia to ill...

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Detalles Bibliográficos
Autores principales: Zima, Laura, Ceulemans, Sophia, Reiner, Gail, Galosi, Serena, Chen, Dillon, Sahagian, Michelle, Haas, Richard H., Hyland, Keith, Friedman, Jennifer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093839/
https://www.ncbi.nlm.nih.gov/pubmed/30128325
http://dx.doi.org/10.1002/acn3.597

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093839/
https://www.ncbi.nlm.nih.gov/pubmed/30128325
http://dx.doi.org/10.1002/acn3.597

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