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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...
Autores principales: | Buckley, Cliona, Williams, Jennifer, Munteanu, Tudor, King, Mary, Park, Su Mi, Meredith, Andrea L., Lynch, Timothy |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ubiquity Press
2020
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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 |
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