患儿，男性，3岁10月龄，因间断抽搐1年余入院。患儿表现为全面发育落后，面部畸形，轴性肌张力低下，出现痉挛发作、肌阵挛发作等多种形式的癫痫发作。格塞尔发育量表示重度发育落后，脑电图示广泛性尖波及棘慢波，遗传学检测结果示ATAD3A基因存在c.1582C>T（p.Arg528Trp）致病性新发杂合错义变异。最终患儿诊断为Harel-Yoon综合征。经抗癫痫发作药物治疗后，癫痫发作控制，运动发育较前进步。该文报道1例ATAD3A基因杂合变异导致Harel-Yoon综合征伴癫痫表型的患儿，该癫痫表型为首例中文报道，拓展了该基因的临床表型谱，对诊治具有参考价值。

A 3-year-10-month-old boy was admitted with a history of intermittent seizures for over one year. Global developmental delay, facial dysmorphism, and axial hypotonia were observed, with multiple seizure types including epileptic spasms and myoclonic seizures. Severe developmental delay was indicated by the Gesell Developmental Schedule, and electroencephalography showed generalized spikes and spike-and-slow-wave discharges. A de novo heterozygous missense variant in ATAD3A, c.1582C>T (p.Arg528Trp), was identified and classified as pathogenic, and a diagnosis of Harel-Yoon syndrome was made. After administration of antiseizure medications, seizures were controlled and motor development improved compared with baseline. To our knowledge, this seizure phenotype is the first report in the Chinese literature of Harel-Yoon syndrome due to a heterozygous ATAD3A variant. This case expands the clinical phenotypic spectrum of ATAD3A and provides a reference for diagnosis and management.