| 张冬丽.KCNC1基因新发突变相关发育性癫痫性脑病1例并文献复习[J].安徽医药,待发表. |
| KCNC1基因新发突变相关发育性癫痫性脑病1例并文献复习 |
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| 投稿时间：2023-10-08 录用日期：2023-11-09 |
| DOI： |
| 中文关键词: 发育性癫痫性脑病 KCNC1基因 儿童 非惊厥性癫痫持续状态 |
| 英文关键词: |
| 基金项目: |
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| 中文摘要: |
| 目的 总结1例KCNC1基因新生突变致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神经内二科病房收治的1例KCNC1基因突变患儿的临床特点及基因型特点进行回顾性分析。对目前国内外已报道的45例KCNC1基因变异患者进行汇总分析。结果 患儿，女，5岁10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。本次院外出现反应减低，双眼发呆，动作减少现象，入院后动态视频脑电图监测到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）。截止2022年8月，国内外已报道过45例KCNC1基因变异患者，其中最常见的变异类型为c.959G>A（25/46例），其次常见的变异类型为c.1262C＞T（11/46例），其他变异类型有：（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 对早期起病的以全面性发作为主伴发育落后的患者，需警惕钾离子通道基因突变，尽早行基因检测。本研究中KCNC1基因变异类型及患者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 the second Department of Neurology, Xuzhou Children's Hospital，Xuzhou Medical University in May 2022 were retrospectively 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 form of atypical absence seizures and myoclonic seizures since the age of 1 year. There was a decrease in reaction, a daze in both eyes and a decrease in movement outside the hospital and non-convulsive status epilepticus was detected by dynamic video electroencephalogram after admission. Whole exome sequencing revealed a de novo mutation of KCNC1 gene（c.1298C>A，p .Pro433His）. Until August 2022, 45 patients with KCNC1 gene variants had been reported at home and abroad，among which the most frequent types of mutation is c.959G>A (25/46 cases), the second is 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 seizures and developmental delay, it is necessary to be alert to potassium ion channels gene mutation，early and accurate diagnosis with genetic testing may performed as soon as possible. The type of KCNC1 gene variation and the occurrence of nonconvulsive status epilepticus in this study have not been reported case at home and abroad. |
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