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国际临床研究杂志

International Journal of Clinical Research

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International Journal of Clinical Research. 2026; 10: (3) ; 10.12208/j.ijcr.20260136 .

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

作者： 汤翰林1, 徐嘉璇1, 葛玲1, 高群婷1, 郑晨曦1, 周扬1, 李秋波2 *

1济宁医学院 山东济宁

2济宁医学院附属医院儿科 山东济宁

*通讯作者： 李秋波,单位：济宁医学院附属医院儿科 山东济宁; ；

引用本文: 汤翰林, 徐嘉璇, 葛玲, 高群婷, 郑晨曦, 周扬, 李秋波 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.
Published: 2026/3/29 9:10:07

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。

关键词： KCNC2基因；发育性癫痫性脑病103型；基因突变

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.

Key words： KCNC2 gene; Developmental and epileptic encephalopathy type 103; Gene mutation

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