目的 总结10例ATP1A2及ATP1A3基因变异患儿的临床表现和基因变异类型，丰富对该疾病的基因型-表型关联认识，促进临床医师对该疾病的了解。方法 回顾性收集2015年11月至2024年6月诊治的10例ATP1A2及ATP1A3基因变异患儿的临床资料，分析其遗传学及临床特征，结合文献检索，总结已报道的ATP1A2及ATP1A3基因变异类型与临床表现的关系。结果 共纳入ATP1A2及ATP1A3基因变异患儿10例，女3例、男7例，起病年龄0至14岁；以惊厥起病3例，以肌无力起病2例，偏瘫起病1例，交替性偏瘫起病1例，注意力缺陷障碍伴遗尿起病1例，1例以惊厥合并肌无力起病，语言运动障碍起病1例。基因检测ATP1A2变异3例，ATP1A3变异7例，均为点突变。目前ATP1A2基因（NM_000702.3）变异c.587G>A（p.Arg196His）及c.2841-2A>C突变位点和ATP1A3基因（NM_152296.4）变异c.1013C>T（p.Ala338Val）及c.2426C>A（p.Ala809Asp）突变位点尚未见报道。结论 新发现的变异丰富了ATP1A2及ATP1A3基因变异谱及临床表现谱，同时提示临床工作者对于以癫痫、肌无力及偏瘫等神经症状为首发表现的疾病，若疗效欠佳时应及时完善基因检测以明确诊断。

Objective To summarize the genetic clinical manifestations and mutation typing of 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations, enriching the understanding of the genotype-phenotype correlation of this disease and promoting the understanding of this disease by clinicians. Methods A retrospective collection of clinical data from 10 pediatric patients with ATP1A2 and ATP1A3 gene mutations treated at Hospital from November 2015 to June 2024 was conducted. The genetic and clinical characteristics were analyzed, and a literature search was performed to summarize the relationship between the reported types of ATP1A2 and ATP1A3 gene mutations and their clinical manifestations. Results This study included 10 pediatric patients (3 girls and 7 boys), and the age of onset ranged from birth to 14 years old. Three children had onset with convulsions, 2 with muscle weakness, 1 with hemiplegia, 1 with alternating hemiplegia, 1 with attention deficit disorder accompanied by enuresis, 1 with convulsions combined with muscle weakness, and 1 with language and motor disabilities. Genetic testing identified ATP1A2 mutations in 3 cases and ATP1A3 mutations in 7 cases, all of which were point mutations. The mutation sites c.587G>A(p.Arg196His) and c.2841-2A>C in the ATP1A2 gene (NM_000702.3), as well as c.1013C>T(p.Ala338Val) and c.2426C>A(p.Ala809Asp) in the ATP1A3 gene (NM_152296.4) have not been previously reported. Conclusions The newly discovered mutations enrich the mutation spectrum of ATP1A2 and ATP1A3 genes and their clinical manifestations. Meanwhile, it suggests to clinicians that for diseases presenting initially with neurological symptoms such as epilepsy, muscle weakness, and hemiplegia, if the treatment outcome is suboptimal, gene testing should be promptly carried out to establish a definite diagnosis.