Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E

The diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia and paroxysmal dyskinesia presented with facial twitching, wri...

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Detalles Bibliográficos
Autores principales: Buckley, Cliona, Williams, Jennifer, Munteanu, Tudor, King, Mary, Park, Su Mi, Meredith, Andrea L., Lynch, Timothy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7597580/
https://www.ncbi.nlm.nih.gov/pubmed/33178487
http://dx.doi.org/10.5334/tohm.549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7597580/
https://www.ncbi.nlm.nih.gov/pubmed/33178487
http://dx.doi.org/10.5334/tohm.549

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