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REVIEW ARTICLE
Year : 2017  |  Volume : 1  |  Issue : 4  |  Page : 239-249

Recent progress in identifying genetic and epigenetic contributions to epilepsy


1 Department of Genetics, Institute of Reproduction and Development in Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200438, China
2 Department of Genetics, The State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development in Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200438, China
3 Department of Neurology, Children's Hospital of Fudan University, Shanghai 201102, China

Correspondence Address:
Hong-Yan Wang
The State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, 2005 Songhu Road, Shanghai 200438
China
Yi Wang
Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2096-2924.224912

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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.


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