Author

Yun Zhou

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Case report Aug 2026

[Clinical and genetic analysis of a child with Relapsing encephalopathy with cerebellar ataxia due to variant of ATP1A3 gene].

The c.2267G>A (p.Arg756His) variant of the ATP1A3 gene probably underlay the pathogenesis of RECA in this proband and has enriched the variant spectrum of the ATP1A3 gene and the clinical phenotype spectrum of patients with ATP1A3 gene-associated RECA.

Yun Zhou, Lu-Lu Yan, Minghai Huang et al. · Zhonghua yi xue yi chuan xue... · 0 citations