| 张冬丽,郑诺,张园,等.KCNC1基因新生突变相关发育性癫痫性脑病 1例并文献复习[J].安徽医药,2025,29(11):2250-2253. |
| KCNC1基因新生突变相关发育性癫痫性脑病 1例并文献复习 |
| Case report of developmental epileptic encephalopathy caused by de novo of KCNC1 gene mutation and literature review |
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| DOI：10.3969/j.issn.1009-6469.2025.11.028 |
| 中文关键词: 癫痫性脑病 基因突变 KCNC1基因 儿童 非惊厥性癫痫持续状态 |
| 英文关键词: Epileptic encephalopathy Gene mutation KCNC1 gene Children Non-convulsive status epilepticus |
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| 中文摘要: |
| 目的总结 1例 KCNC1基因新生突变相关发育性癫痫性脑病的临床特点及基因变异类型，并进行文献复习。方法对 2022年 5月徐州医科大学附属徐州儿童医院收治的 1例 KCNC1基因突变病儿的临床特点及基因型特点进行回顾性分析，并对目前国内外已报道的 45例 KCNC1基因变异病人进行汇总分析。结果女， 5岁 10个月，自幼全面性发育落后，自 1岁起出现癫痫发作，发作形式为不典型失神发作、肌阵挛发作。该次出现非惊厥性癫痫持续状态，完善基因检测发现 KCNC1基因新生突变(c.1298C>A，p .Pro433His)明确诊断为 KCNC1基因新生突变相关发育性癫痫性脑病。截至 2022年 8月，国内外已报道过 45例 KCNC1基因变异病人，含该例，共 46例病人，其中最常见的变异类型为 c.959G>A(25/46例)，其次为 c.1262C>T(11/46例)，其他类型有: c.949C>A(1/46例)c.1298C>A(1/46例)，c.1015C>T(3/46例)，c.1474C>T(2/46例)，c.950G>A(1/46例)，c.623G>A(1/46例)，c.1196C>T(1/46例)。涉，及不同表型。结论对于早期起病的以全面性发作为主伴发育落后的病人，须警惕钾离子通道基因突变，尽早行基因检测。该研究中的 KCNC1基因变异类型及病人出现了非惊厥性癫痫持续状态目前国内外未见报道。 |
| 英文摘要: |
| Objective To summarize the clinical features and genetic variant of a child with developmental epileptic encephalopathy caused by de novo of KCNC1 gene mutation, and to review the related literatures.Methods The phenotype and genotype of a child with KCNC1 gene mutation admitted to Xuzhou Children's Hospital Affiliated to Xuzhou Medical University in May 2022 were retro-spectively analyzed. The 45 patients with KCNC1 gene mutation reported at home and abroad were collected and analyzed.Results A female child, aged 5 years and 10 months, had generalized developmental delay since childhood and had epileptic seizures in the formof atypical absence seizures and myoclonic seizures since the age of 1 year. Non-convulsive status epilepticus occurred this time. Whole exome sequencing revealed a de novo mutation of KCNC1 gene (c.1298C>A, p .Pro433His). Until August 2022, 45 patients withKCNC1 gene variants had been reported at home and abroad. Including this case, there are a total of 46 patients, among which the mostfrequent types of mutation is c.959G>A (25/46 cases), the second was c.1262C>T (11/46 cases), and other types of mutation including(c.949C>A, 1/46 case), (c.1298C>A, 1/46 case), c.1015C>T (3/46 cases), c.1474C>T (2/46 cases), c.950G >A (1/46 case), c.623G >A(1/46 case), c.1196C>T (1/46 case). It involved a variety of phenotype.Conclusions For patients with early onset of generalized sei-zures and developmental delay, it is necessary to be alert to potassium ion channels gene mutation, early and accurate diagnosis with ge-netic testing may performed as soon as possible. The type of KCNC1 gene variation and the occurrence of nonconvulsive status epilepti-cus in this study have not been reported case at home and abroad. |
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