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Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
BACKGROUND: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3–8 are reported in rare families....
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Ubiquity Press
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064912/ https://www.ncbi.nlm.nih.gov/pubmed/37008993 http://dx.doi.org/10.5334/tohm.747 |