【摘要】 目的 探讨CDKL5缺乏症(CDD)患儿CDKL5基因突变相关早发性癫痫脑病的临床表型特点。方法 收集2018年11月至2023年1月经全外显子组测序技术筛选出的10例CDD CDKL5基因突变患儿的临床资料，并进行临床表型及基因型分析。结果 10例患儿中女性8例、男性2例，起病年龄为1～15月龄，中位年龄为2月龄。CDD患儿的癫痫发作包括痉挛发作、局灶性发作、强直发作及肌阵挛发作等。10例患儿经基因检测证实为CDKL5基因变异，包括4例移码变异(c.1330delC、c.786delC、c.163＿166del、c.2821delT)、4例无义突变(c.2277G>A、c.2249C>G、c.1648C>T、c.2854C>T)及2例错义突变(c.3068A>G、c.1819C>T),其中7个位点尚未被报道。结论 CDD患儿CDKL5基因突变起病早，发作形式多样，本研究对CDKL5基因突变相关癫痫病例10例CDD患儿的临床特征及基因表现进行分析，丰富了CDKL5基因突变相关癫痫的临床认识。更多还原

【Abstract】 Objective To explore the clinical phenotypic characteristics of CDKL5 gene mutation-associated early-onset epileptic encephalopathy in children with CDKL5 deficiency disorder(CDD). Methods Clinical data was collected from 10 CDD children carrying CDKL5 gene mutations screened by whole exome sequencing technology from November 2018 to January 2023. Clinical phenotypes and genotypes were analyzed. Results Among 10 patients, there were 8 females and 2 males, and their onset at age ranged from 1 month to 15 months, with a median age of 2 months. Epileptic seizures in children with CDD included spastic seizures, focal seizures, tonic seizures and myoclonic seizures. These 10 children were confirmed to carry genetic test-diagnosed CDKL5 gene mutations, among which, 4 patients with frameshift mutations(c.1330delC, c.786delC, c.163＿166del, c.2821delT), 4 patients with nonsense mutations(c.2277G>A, c.2249C>G, c.1648C>T, c.2854C>T) and 2 patients with missense mutations(c.3068A>G, c.1819C>T). Among these mutation loci, 7 loci have not been reported before. Conclusion CDD Children carrying CDKL5 gene mutation have early onsets and a variety of seizure forms. This study analyzed the clinical characteristics and genetic manifestations of 10 children with CDD related epilepsy caused by CDKL5 gene mutations, enriching the clinical understanding of CDKL5 gene mutation related epilepsy.更多还原