Recent Progress in Identifying Genetic and Epigenetic Contributions to Epilepsy

作     者：Zi-Ying Hu Hong-Yan Wang Yi Wang 

作者机构：Department of GeneticsInstitute of Reproduction and Development in Obstetrics and Gynecology HospitalFudan UniversityShanghai 200438China Department of GeneticsThe State Key Laboratory of Genetic Engineering at School of Life SciencesInstitute of Reproduction and Development in Obstetrics and Gynecology HospitalFudan UniversityShanghai 200438China Department of NeurologyChildren’s Hospital of Fudan UniversityShanghai 201102China 

出 版 物：《Reproductive and Developmental Medicine》 (生殖与发育医学（英文版）)

年 卷 期：2017年第1卷第4期

页      面：239-249页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：Chromosomal Abnormality Epigenetic Epilepsy Genetic 

摘      要：Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely unknown. Numerous factors, including genetic mutations, brain damage, and environmental insults, have been implicated in the etiology of epilepsy, but the cause for individual epilepsy patients is often unknown. Research on inherited forms of epilepsy has identified mutations in genes encoding ion channels or neurotransmitter receptors. Family?based studies of inherited forms of epilepsy have previously identified mutations in genes encoding ion channels and neurotransmitter receptors. With a deepening understanding of the underlying cellular pathways, researchers have identified epilepsy candidate genes that function in synaptic vesicle trafficking, chromatin remodeling, transcription, and mammalian target of rapamycin(mTOR) signaling. More recently, genes involved in synaptic vesicle transport, chromatin remodeling, and transcription, as well as the mTOR signaling pathway, have also been implicated in inherited forms of the disorder. In addition, recent advances in DNA sequencing and genomic technologies have identified chromosomal copy number variants and epigenetic modifications as possible contributing factors in inherited epilepsy. In this review, we focus on the established and potential contributions of genes, chromosomal abnormalities, and epigenetic modifications to the development of epilepsy.