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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...

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Detalles Bibliográficos
Autores principales: Zhang, Weihua, Li, Jiuwei, Zhuo, Xiuwei, Zhou, Ji, Feng, Weixing, Gong, Shuai, Ren, Xiaotun, Ding, Changhong, Han, Tongli, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
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