Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow‐up

• Main Authors: Weihua Zhang (Author), Jiuwei Li (Author), Xiuwei Zhuo (Author), Ji Zhou (Author), Weixing Feng (Author), Shuai Gong (Author), Xiaotun Ren (Author), Changhong Ding (Author), Tongli Han (Author), Fang Fang (Author)
• Format: Book
• Published: Wiley, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ABSTRACT 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 clinica...