Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome

Frontiers in Neurology

Neurology

Sixiu Li¹  Yanjuan Wang¹  Lili Zhao¹  Mingping Lan¹  Ping Liu¹  Wenguang Hu² 

[1] Department of Pediatric Neurology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China;null;

关键词: SETD1A gene;    infantile epileptic spasms syndrome;    whole exome sequencing;    case report;    review;   

DOI  :  10.3389/fneur.2023.1278035

 received in 2023-08-15, accepted in 2023-09-25,  发布年份 2023

来源: Frontiers

【 摘 要 】

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 SETD1A (SET Domain Containing 1A) gene encodes a histone lysine methyltransferase that activates gene transcription through histone H3 lysine K4 methylation. Mutations in the SETD1A gene have been associated with schizophrenia, and some have been reported to cause seizures. Herein, we report a case of IESS caused by a SETD1A 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 SETD1A gene, representing a de novo mutation. There have been no previous reports on the SETD1A gene causing infantile spasms. We also summarize the existing literature on SETD1A gene–related epilepsy to provide a reference for clinical diagnosis and treatment.

【 授权许可】

Unknown   
Copyright © 2023 Lan, Wang, Li, Zhao, Liu and Hu.