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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2026

Zhou Yun, Yan Lulu, Huang Minghai, Tu Youquan, Chen Changshui, Zhang Yuxin, He Yan, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype, genetic characteristics and etiology of a child with Relapsing encephalopathy with cerebellar ataxia (RECA). METHODS: A child diagnosed with RECA due to variant of ATP1A3 gene at the Affiliated Women and Children's Hospital of Ningbo University in March 2022 was selected as study subject. Cubital vein blood samples were collected from the child and his parents....

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Brain Diseases
Cerebellar Ataxia
Child, Preschool
Infant
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sodium-Potassium-Exchanging ATPase

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PMID: 42386663
DOI: 10.3760/cma.j.cn511374-20250326-00183

Genes

ATP1A3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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