Advances in genetic etiology, diagnosis and treatment of developmental and epileptic encephalopathy

Yi Chuan. 2023 Jul 20;45(7):553-567. doi: 10.16288/j.yczz.23-105.


Developmental and epileptic encephalopathy (DEE) is a clinically and genetically heterogeneous group of age-dependent neurological disorders characterized by onset of refractory seizures in infancy or early childhood and affected individuals with delayed or regressive psychomotor development. With the development of next-generation sequencing technology, especially the application of whole-exome sequencing technology, more and more genes have been found to be associated with DEE.These discoveries provide a basis for the detection of pathogenic genes for DEE in clinical work, and also help to deepen our understanding of the pathogenesis of DEE. In this review, we provide a comprehensive review of the genetic etiology, diagnosis and treatment of DEE, in order to assist clinicians in early identification of relevant gene mutations, thereby expediting disease diagnosis and timely implementation of optimal treatment.

发育性和癫痫性脑病(developmental and epileptic encephalopathy, DEE)是一组临床和遗传异质的年龄依赖性神经系统疾病,其特征是在婴儿期或儿童早期出现难治性癫痫发作,且受影响的个体有精神运动发育迟缓或倒退。随着二代测序技术的发展,尤其是全外显子测序技术的应用,越来越多的基因被发现与DEE相关。这些发现将为临床工作中DEE致病基因的检测提供依据,同时将有助于加深对DEE发病机制的理解。本文主要对DEE的遗传学病因及诊疗的相关研究进展展开综述,以期帮助临床医生早期识别相关基因突变,从而加快疾病诊断并及时实施最佳治疗。.

Keywords: DEE; OMIM database; genetic variation.

Publication types

  • Review

MeSH terms

  • Brain Diseases* / genetics
  • Child, Preschool
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Mutation