Yun Hee-Jeong, Kim Soo Yeon, Kim Woojoong, Lee Seungbok, Chae Jong-Hee, Kim Ki Joong, Lim Byung Chan
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Brain Dev. 2025 Aug;47(4):104382. doi: 10.1016/j.braindev.2025.104382. Epub 2025 Jun 19.
To delineate the epilepsy spectrum and evaluate the response of pediatric patients with EEF1A2-related epilepsy to antiseizure medications (ASMs).
We conducted a retrospective analysis of seven pediatric patients with EEF1A2 mutations identified at our institution, combined with 69 cases from prior literature, resulting in a cohort of 76 patients. Data for age of seizure onset, seizure types, epilepsy syndromes, ASM responses, and neurodevelopmental outcomes were collected and analyzed. Epilepsy syndromes were classified following the International League Against Epilepsy guideline.
Among the 76 patients, 61 (80 %) presented with epilepsy, with a median seizure onset age of 4.5 months. Of these, 56 % experienced seizure onset before the age of 12 months. Generalized seizures were predominant (67 %), including epileptic spasms, myoclonic, tonic, and tonic-clonic seizures. Developmental epileptic encephalopathy (DEE) was observed in 59 % of patients, although a range of milder epilepsy phenotypes was also present. Broad-spectrum ASMs, such as valproic acid, lamotrigine, and levetiracetam, demonstrated effectiveness in controlling seizures in 65 % of patients. Recurrent mutations such as p.Gly70Ser and p. Glu122Lys were predominantly associated with severe DEE.
EEF1A2-related epilepsy encompasses a broad spectrum of phenotypes, from early-onset severe syndromes to milder forms. Specific mutations within EEF1A2 seemed to be correlated with severe DEE.
明确癫痫谱系，并评估患有EEF1A2相关癫痫的儿科患者对抗癫痫药物（ASMs）的反应。
我们对在本机构确诊的7例携带EEF1A2突变的儿科患者进行了回顾性分析，并结合先前文献中的69例病例，最终形成了一个76例患者的队列。收集并分析了癫痫发作起始年龄、发作类型、癫痫综合征、ASM反应和神经发育结局的数据。癫痫综合征按照国际抗癫痫联盟指南进行分类。
在这76例患者中，61例（80%）患有癫痫，癫痫发作的中位起始年龄为4.5个月。其中，56%的患者在12个月龄之前出现癫痫发作。全身性发作占主导（67%），包括癫痫性痉挛、肌阵挛、强直和强直阵挛发作。59%的患者观察到发育性癫痫性脑病（DEE），不过也存在一系列较轻的癫痫表型。广谱ASMs，如丙戊酸、拉莫三嗪和左乙拉西坦，在65%的患者中显示出控制癫痫发作的有效性。复发性突变，如p.Gly70Ser和p.Glu122Lys，主要与严重的DEE相关。
EEF1A2相关癫痫涵盖了广泛的表型，从早发性严重综合征到较轻的形式。EEF1A2内的特定突变似乎与严重的DEE相关。
