Abstract：
Mutations in the ATP1A3 gene have been associated with several syndromes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. In this clinical commentary, we report a 2-year-old female patient with de novo pathogenic variant in the ATP1A3 gene associated with an early-onset form of epilepsy with eyelid myoclonia. The patient had frequent eyelid myoclonia occurring 20-30 times per day, without loss of awareness or other motor manifestations. EEG showed generalized polyspikes and spike-and-wave complexes maximal in the bifrontal regions, with prominent eye closure sensitivity. A sequencing-based epilepsy gene panel revealed a de novo pathogenic heterozygous variant in ATP1A3. The patient showed some response to flunarizine and clonazepam. This case highlights the importance of considering ATP1A3 mutations in the differential diagnosis of early-onset epilepsy with eyelid myoclonia and the potential benefit of flunarizine in improving language and coordination development in patients with ATP1A3-related disorders.
摘要：
ATP1A3基因的突变与几种综合征有关，包括快速发作的肌张力障碍-帕金森病,交替偏瘫的童年，和小脑共济失调,无反射,pescavus,视神经萎缩,和感觉神经性听力损失。在这篇临床评论中，我们报道了1例2岁女性患者,其ATP1A3基因的新致病变异与伴有眼睑肌阵挛性的早发性癫痫相关.患者频繁出现眼睑肌阵挛症，每天20-30次，没有丧失意识或其他运动表现。EEG在双额叶区域显示出广义的多尖峰和尖峰波复合物，具有突出的闭眼敏感性。基于测序的癫痫基因小组揭示了ATP1A3中的从头致病性杂合变体。患者对氟桂利嗪和氯硝西泮有一定反应。该病例强调了考虑ATP1A3突变在早期发作性癫痫合并眼睑肌阵挛症的鉴别诊断中的重要性，以及氟桂利嗪在改善ATP1A3相关疾病患者的语言和协调发育方面的潜在益处。
