Case report: variant of causes infantile epileptic spasms syndrome.

Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay. Genetic factors are important causes of IESS. The (SET Domain Containing 1A) gene encodes a histone lysine methyltransferase that activates gene transcription through histone H3 lysine K4 methylation. Mutations in the gene have been associated with schizophrenia, and some have been reported to cause seizures. Herein, we report a case of IESS caused by a gene mutation. Video electroencephalography showed hypsarrhythmia. No specific findings were obtained after brain MRI and metabolic work-up. The seizures disappeared after treatment with adrenocorticotropic hormone, vitamin B6, and valproic acid during hospitalization. Genetic testing revealed that the child had a variant (NM_014712.3:c.3005_3,006 delAG, p.Glu1002Glyfs*20) in exon 12 of the gene, representing a mutation. There have been no previous reports on the gene causing infantile spasms. We also summarize the existing literature on gene-related epilepsy to provide a reference for clinical diagnosis and treatment.