关键词: CDKL5基因, 癫痫, 癫痫性痉挛, 高峰失律

Abstract: Objective　Totally 20 cases of CDKL5 gene mutation positivity，i. e. CDKL5 deficiency disorder（CDD），were found through gene detection in children with recurrent seizures of unknown etiology to summarize the phenotypic characteristics of epilepsy. Methods　A total of 20 children with CDD，who were admitted to the Department of Pediatrics，the First Affiliated Hospital of Tianjin University of Chinese Medicine from April 2016 to December 2021，were included in the study. Their seizure characteristics and evolution were summarized. The whole exon group was sequenced by high-throughput sequencing technology，and the phenotypic analysis was conducted after the gene detection results were obtained. Results　Twenty children with CDD presented with recurrent seizures，including one male and 19 females；17 cases had obvious intellectual and motor development delay. The onset age of epileptic seizure was 2 days to 1 year after birth，and the common types of first seizure were generalized tonic-clonic seizure，focal seizure and tonic seizure. Fourteen children successively experienced epileptic seizure，all of which occurred before 8 months old. In the course of 12 childrens diseases，the electroencephalogram recorded the peak ataxia. All 20 children were treated with antiepileptic drugs. Except for one patient who was treated with sodium valproate alone，the rest of the cases received combination therapy. A total of 19 CDKL5 gene mutation types were found，5 of them have been reported，and the remaining 14 were new mutations. In this study，CDKL5 mutations were divided into eight groups according to the analysis of protein structural regions involved by gene mutation，of which one case was in Group H，with a good prognosis. Conclusion　The phenotypic characteristics of epilepsy in children with CDD are summarized and it is analyzed that its characteristics are related to the mutation types and function of CDKL5 gene.

Key words: CDKL5 gene, epilepsy, epileptic spasm, peak ataxia