Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Neurometabolism & Neurogenetics, Cleveland Clinic, Cleveland, Ohio, USA.
Epileptic Disord. 2023 Aug;25(4):545-548. doi: 10.1002/epd2.20086. Epub 2023 Jun 28.
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.
ATP1A3 基因突变与多种综合征有关，包括发作性运动诱发性运动障碍、儿童交替性偏瘫、小脑共济失调、反射消失、高弓足、视神经萎缩和感觉神经性听力损失。在本临床评论中，我们报告了一例 2 岁女性患者，携带 ATP1A3 基因的新生致病性变异，与早发性眼睑肌阵挛癫痫有关。患者每天有 20-30 次频繁的眼睑肌阵挛，无意识丧失或其他运动表现。EEG 显示全面性多棘波和棘慢波综合波，以额区最明显，伴有明显的闭眼敏感性。基于测序的癫痫基因panel 显示 ATP1A3 存在新生致病性杂合变异。患者对氟桂利嗪和氯硝西泮有一定反应。本病例强调了在伴有眼睑肌阵挛的早发性癫痫的鉴别诊断中考虑 ATP1A3 突变的重要性，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。
