关键词: 痉挛症；　DEPDC5基因；　婴儿

Abstract: Objective　To explore the clinical features of infantile spasm associated with DEPDC5 gene mutation. Method The clinical data of infantile spasm associated with DEPDC5 gene mutation in 3 infants from October 2016 to May 2018 were retrospective analyzed. Results　In 2 girls the age at onset was 1 month and at 4 months respectively. In 1 boy the age at onset was one month. The c.3092C > A (p.Pro1031His) and c.20A > G (p.Tyr7Cys) of DEPDC5 gene were found in 2 girls, and they were heterozygous mutations and not completely extraneous. The c.280-1G > A, splicing, , was found to be a new mutation in the boy. Cranial magnetic resonance imaging was normal in all 3 patients, but PET-CT showed cortical dysplasia in the left temporal region in the boy. The seizures were controlled by the antiepileptic drugs combined with hormone therapy in 2 girls, while the antiepileptic drugs and hormone therapy were not effective in the boy and the seizures were controlled after surgical treatment. Conclusions　DEPDC5 gene may be the pathogenic gene of infantile spasm, and it has a certain genotype-phenotype correlation. Aminohexenoic acid has a certain therapeutic effect on DEPDC5 mutation-related infantile spasm. Surgical treatment should be considered for patients with refractory focal epilepsy caused by mutation of DEPDC5 gene.

Key words: spasm;　DEPDC5 gene;　infant