目的 探讨CDKL5基因变异相关早发癫痫脑病的临床及遗传学特点。方法 分析1例CDKL5基因变异相 关早发癫痫脑病男性患儿的临床资料。结果 患儿出生30天起出现强直、痉挛、肌阵挛等多种形式的癫痫发作，并伴显著 的清醒期手足徐动，进展为难治性痉挛发作及严重精神发育迟滞和语言运动发育障碍，多种抗癫痫药物联合治疗效果差。 基因检查发现CDKL5基因c.416A>G错义变异，导致第139号谷氨酸变为甘氨酸（p.Glu139Gly），其父母该位点未见异常， 为新生变异。该位点变异尚未见报道，经软件预测为致病性变异。结论 报道罕见的男性CDKL5基因变异相关早发癫痫 脑病，扩大了早发性癫痫脑病致病基因CDKL 5的基因变异谱。

Objective To investigate the clinical and genetic characteristics of CDKL5 gene mutation-associated with early-onset epileptic encephalopathy. Methods The clinical characteristics and genetic variation of CDKL 5 gene mutation in a baby boy with early-onset epileptic encephalopathy were analyzed. Results On the 30th day after birth, the children began to have a variety of forms of seizures, such as tonia, spasm, myoclonus, and accompanied by a significant waking athetosis. The child was treated with a combination of antiepileptic drugs with poor efficacy, which resulted in refractory spasmodic seizures, severe developmental delay and language and motor delay. Gene examination revealed a de novo c. 416 A>G (p.Glu 139 Gly) missense mutation in CDKL 5 gene, which has not been reported. Conclusion In this paper, the mutation spectrum of CDKL 5 was expanded (c.416 A>G), which could lead to severe early-onset epileptic encephalopathy in male children.