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Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow‐up
IMPORTANCE: The phenotypes of ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever‐induced paroxysmal weakness and encephalopathy (FIPWE) are considered non‐classical phenotypes caused by p.Arg756 mutations of ATP1A3. OBJECTIVE: To summarize the clinical manif...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960925/ https://www.ncbi.nlm.nih.gov/pubmed/35382416 http://dx.doi.org/10.1002/ped4.12310 |