Yang Juhua, Huang Yuping, Chen Zhijun, Peng Jiaheng, Li Kangyu, Huang Lijuan, Yang Jie, Yang Chunhui
Department of Neonatology, Zhongshan Boai Hospital, Zhongshan, 528400, China.
Department of Neonatology, Nanfang Hospital, Southern Medical University, Guangzhou, 510450, China.
Biochem Biophys Rep. 2025 Apr 29;42:102008. doi: 10.1016/j.bbrep.2025.102008. eCollection 2025 Jun.
Early-onset epileptic encephalopathy (EOEE) is mainly characterized by early refractory epileptic seizures in infants with progressive brain dysfunction, accompanied by complex causes (such as perinatal brain injury, structural brain malformations and genetic metabolic diseases). Early identification and etiological treatment are critical. It has been reported that mutations in Potassium Voltage-Gated Channel Subfamily Q Member 2 () can result in EOEE. This study analyzed the genetic defects and clinical phenotypes of a newborn with early epileptic encephalopathy. Whole exome gene detection identified a novel heterozygous point mutation p. W218C in The pathogenic variant was located in the protein's S4S5 connection region and was identified as a harmful mutation by silico tools. The child's clinical phenotype finally manifested as West syndrome during the follow-up. The mentioned variation may lead to severe clinical manifestations and poor neurological prognosis. Whole exome gene detection provides clinicians with more information on neonatal epileptic encephalopathy.
早发性癫痫性脑病（EOEE）主要特征为婴儿期出现早期难治性癫痫发作并伴有进行性脑功能障碍，病因复杂（如围产期脑损伤、脑结构畸形和遗传代谢性疾病）。早期识别和病因治疗至关重要。据报道，钾离子电压门控通道Q亚家族成员2（）的突变可导致EOEE。本研究分析了一名患有早期癫痫性脑病新生儿的基因缺陷和临床表型。全外显子基因检测在中发现了一个新的杂合点突变p.W218C。该致病变异位于蛋白质的S4S5连接区域，经计算机工具鉴定为有害突变。随访期间，患儿临床表型最终表现为韦斯特综合征。上述变异可能导致严重的临床表现和不良的神经预后。全外显子基因检测为临床医生提供了更多关于新生儿癫痫性脑病的信息。
