目的　探讨早发癫痫性脑病的CDKL5基因突变。方法　回顾3例早发癫痫性脑病患儿的临床资料。应用疾 病基因靶向二代测序技术进行癫痫基因测序分析，发现致病性CDKL5基因突变后，采用Sanger 测序验证。结果　3例患 儿中，男性1例、女性2例，年龄分别为3岁、 8岁、 3个月。例1患儿CDKL5基因c. 2854 C﹥T无义突变，其父该位点未见异常， 其母该位点为杂合子，符合X-连锁遗传方式；例2患儿CDKL5基因c.858 C﹥A无义突变，其父母该位点未见异常；例3 患儿CDKL5基因c.1363delG框移变异，导致从455号丙氨酸开始的氨基酸合成发生改变，并在改变后的第38个氨基酸处 提前终止，其父母该位点未见异常。结论　3例CDKL5基因突变致早发癫痫性脑病，其中C.1363delG框移突变未见报道。

Objective　To investigate clinical features and cyclin-dependent kinase-like 5 (CDKL5) mutations in 3 cases with early epileptic encephalopathies（EEEs ） Methods　Clinical data of 3 cases with EEEs were retrospectively analyzed. Next generation sequencing (NGS) was used to detect CDKL5 genes mutations, and Sanger sequencing was performed to confirm the mutations identified by NGS. Results　The three patients are one male and two females, aged 3 years old, 8 years old and 3 months old, respectively. Case one was found to have a hemizygous mutation c. 2854 C＞T in CDKL5 which was inherited from his mother, case two was found to have a de novo nonsense mutation c.858 C＞A，and case 3 was found to have a de novo frame shift mutation c. 1363delG. Conclusions　The mutation in CDKL5 lead to EEEs, and the newly found c. 1363delG expands the mutation spectrum of the CDKL5 gene．