一例KCNC2基因突变导致的发育性癫痫性脑病103型患儿的病例报道兼文献复习-国际临床研究杂志-CSCIED科技核心评价数据库-手机版

一例KCNC2基因突变导致的发育性癫痫性脑病103型患儿的病例报道兼文献复习

A case report and literature review of a child with developmental and epileptic encephalopathy type 103 caused by KCNC2 gene mutation

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DOI	10.12208/j.ijcr.20260136
刊名	国际临床研究杂志 International Journal of Clinical Research
年，卷(期)	2026, 10(3)
作者	高群婷¹, 葛玲¹, 李秋波², 汤翰林¹, 徐嘉璇¹, 郑晨曦¹, 周扬¹,
作者单位	济宁医学院山东济宁; 济宁医学院附属医院儿科山东济宁;
摘要	本文报道1例10月龄男性先证者，因无热惊厥就诊，伴智力及运动发育落后，经多药调整仍有癫痫发作，且存在免疫力低下。颅脑 MRI 及视频脑电图均提示异常，全外显子检测发现其 KCNC2 基因存在未报道的 c.1829A>G（p.Asn610Ser）杂合突变，来源于母亲，符合常染色体显性遗传规律，确诊为发育性癫痫性脑病 103型。文献复习显示，42例相关患儿中76.2%有癫痫发作、54.8%发育迟滞，多数可存活。本病例拓展了KCNC2基因突变的致病位点与表型谱，为该病早期诊断与治疗提供参考。
Abstract	We report a case of a 10-month-old male proband admitted for afebrile seizures, accompanied by intellectual and motor developmental delay. Despite multiple antiepileptic drug adjustments, seizures persisted, and the patient also had immune deficiency. Cranial MRI and video electroencephalography both indicated abnormalities. Whole-exome sequencing identified an unreported heterozygous KCNC2 mutation c.1829A>G (p.Asn610Ser), which was inherited from his mother and consistent with an autosomal dominant inheritance pattern. The patient was diagnosed with developmental and epileptic encephalopathy type 103. A literature review showed that among 42 relevant cases, 76.2% had seizures, 54.8% had developmental delay, and most patients survived. This case expands the pathogenic mutation spectrum and phenotypic profile of KCNC2 gene mutations, providing a reference for the early diagnosis and treatment of this disease.
关键词	KCNC2基因；发育性癫痫性脑病103型；基因突变
KeyWord	KCNC2 gene; Developmental and epileptic encephalopathy type 103; Gene mutation
基金项目
页码	81-84

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引用本文

高群婷, 葛玲, 李秋波, 汤翰林, 徐嘉璇, 郑晨曦, 周扬. 一例KCNC2基因突变导致的发育性癫痫性脑病103型患儿的病例报道兼文献复习 [J]. 国际临床研究杂志. 2026; 10; (3). 81 - 84.

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