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February 25, 2022Pediatric InvestigationOpen Access

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

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WZWeihua ZhangJLJiuwei LiXZX W Zhuo

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Zhang et al. (2022) studied this question.

synapsesocial.com/papers/6aaf3b498fea992f19398c09https://doi.org/10.1002/ped4.12310
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation2015 · 97 citations
  2. 2Variants of <i>ATP1A3</i> in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review2021 · 14 citations
  3. 3Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly2015 · 120 citations