A case of early epileptic encephalopathy caused by new mutation at W218C in KCNQ2 and review literature

IF 2.3 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry and Biophysics Reports Pub Date : 2025-04-29 DOI:10.1016/j.bbrep.2025.102008

Juhua Yang , Yuping Huang , Zhijun Chen , Jiaheng Peng , Kangyu Li , Lijuan Huang , Jie Yang , Chunhui Yang

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引用次数: 0

Abstract

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 (KCNQ2) 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 KCNQ2. 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.

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KCNQ2 W218C新突变致早期癫痫性脑病1例并文献复习

早发性癫痫性脑病（EOEE）主要表现为伴有进行性脑功能障碍的婴幼儿早期难治性癫痫发作，并伴有复杂病因（如围产期脑损伤、脑结构性畸形、遗传代谢性疾病等）。早期识别和病因治疗至关重要。据报道，钾电压门控通道亚家族Q成员2 （KCNQ2）的突变可导致EOEE。本研究分析了新生儿早期癫痫性脑病的遗传缺陷和临床表型。全外显子组基因检测在KCNQ2中发现了一个新的杂合点突变p. W218C。致病变异位于该蛋白的S4S5连接区，并通过硅工具鉴定为有害突变。随访时患儿临床表型最终表现为西氏综合征。上述变异可导致严重的临床表现和不良的神经预后。全外显子组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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.