Genetic and epigenetic mechanisms of epilepsy: a review

Tian Chen,1,* Mohan Giri,2,* Zhenyi Xia,3 Yadu Nanda Subedi,2 Yan Li1 1Department of Health Management Center, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China; 2National Center for Rheumatic Diseases, Ratopul, Gaushala, Kathmandu, Nepal; 3Department of Thora...

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Autores principales:	Chen T, Giri M, Xia ZY, Subedi YN, Li Y
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	Epilepsy genetics neurodevelopment disorder neurological disorder Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/9fab233a4d794035939d6b7df2d3030a
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spelling	oai:doaj.org-article:9fab233a4d794035939d6b7df2d3030a2021-12-02T06:07:22ZGenetic and epigenetic mechanisms of epilepsy: a review1178-2021https://doaj.org/article/9fab233a4d794035939d6b7df2d3030a2017-07-01T00:00:00Zhttps://www.dovepress.com/genetic-and-epigenetic-mechanisms-of-epilepsy-a-review-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Tian Chen,1,* Mohan Giri,2,* Zhenyi Xia,3 Yadu Nanda Subedi,2 Yan Li1 1Department of Health Management Center, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China; 2National Center for Rheumatic Diseases, Ratopul, Gaushala, Kathmandu, Nepal; 3Department of Thoracic Surgery, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China *These authors contributed equally to this work Abstract: Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11.2-q13.3, and 16p13.11-p13.2, some of which disrupt multiple genes, such as NRXN1, AUTS2, NLGN1, CNTNAP2, GRIN2A, PRRT2, NIPA2, and BMP5, implicated for neurodevelopmental disorders, including intellectual disability and autism. Unfortunately, only a few common genetic variants have been associated with epilepsy. Recent exome-sequencing studies have found some genetic mutations, most of which are located in nonion channel genes such as the LGI1, PRRT2, EFHC1, PRICKLE, RBFOX1, and DEPDC5 and in probands with rare forms of familial epilepsy, and some of these genes are involved with the neurodevelopment. Since epigenetics plays a role in neuronal function from embryogenesis and early brain development to tissue-specific gene expression, epigenetic regulation may contribute to the genetic mechanism of neurodevelopment through which a gene and the environment interacting with each other affect the development of epilepsy. This review focused on the analytic tools used to identify epilepsy and then provided a summary of recent linkage and association findings, indicating the existence of novel genes on several chromosomes for further understanding of the biology of epilepsy. Keywords: epilepsy, genetics, neurodevelopment disorder, neurological disorderChen TGiri MXia ZYSubedi YNLi YDove Medical PressarticleEpilepsygeneticsneurodevelopment disorderneurological disorderNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 13, Pp 1841-1859 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Epilepsy genetics neurodevelopment disorder neurological disorder Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Epilepsy genetics neurodevelopment disorder neurological disorder Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Chen T Giri M Xia ZY Subedi YN Li Y Genetic and epigenetic mechanisms of epilepsy: a review
description	Tian Chen,1,* Mohan Giri,2,* Zhenyi Xia,3 Yadu Nanda Subedi,2 Yan Li1 1Department of Health Management Center, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China; 2National Center for Rheumatic Diseases, Ratopul, Gaushala, Kathmandu, Nepal; 3Department of Thoracic Surgery, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China *These authors contributed equally to this work Abstract: Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11.2-q13.3, and 16p13.11-p13.2, some of which disrupt multiple genes, such as NRXN1, AUTS2, NLGN1, CNTNAP2, GRIN2A, PRRT2, NIPA2, and BMP5, implicated for neurodevelopmental disorders, including intellectual disability and autism. Unfortunately, only a few common genetic variants have been associated with epilepsy. Recent exome-sequencing studies have found some genetic mutations, most of which are located in nonion channel genes such as the LGI1, PRRT2, EFHC1, PRICKLE, RBFOX1, and DEPDC5 and in probands with rare forms of familial epilepsy, and some of these genes are involved with the neurodevelopment. Since epigenetics plays a role in neuronal function from embryogenesis and early brain development to tissue-specific gene expression, epigenetic regulation may contribute to the genetic mechanism of neurodevelopment through which a gene and the environment interacting with each other affect the development of epilepsy. This review focused on the analytic tools used to identify epilepsy and then provided a summary of recent linkage and association findings, indicating the existence of novel genes on several chromosomes for further understanding of the biology of epilepsy. Keywords: epilepsy, genetics, neurodevelopment disorder, neurological disorder
format	article
author	Chen T Giri M Xia ZY Subedi YN Li Y
author_facet	Chen T Giri M Xia ZY Subedi YN Li Y
author_sort	Chen T
title	Genetic and epigenetic mechanisms of epilepsy: a review
title_short	Genetic and epigenetic mechanisms of epilepsy: a review
title_full	Genetic and epigenetic mechanisms of epilepsy: a review
title_fullStr	Genetic and epigenetic mechanisms of epilepsy: a review
title_full_unstemmed	Genetic and epigenetic mechanisms of epilepsy: a review
title_sort	genetic and epigenetic mechanisms of epilepsy: a review
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/9fab233a4d794035939d6b7df2d3030a
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_version_	1718400066490728448

Genetic and epigenetic mechanisms of epilepsy: a review

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