Deng Hao, Zheng Wen, Song Zhi
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Tongzipo Road 138, Changsha, Hunan, 410013, China,
Mol Neurobiol. 2014 Jun;49(3):1166-80. doi: 10.1007/s12035-013-8589-1. Epub 2013 Nov 22.
Epilepsy is a common and diverse set of chronic neurological disorders characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Environmental factors and acquired disposition are proposed to play a role to the pathogenesis of epilepsy. Genetic factors are important contributors as well. Comparing to the phenotype of epilepsy caused by mutation of single gene on an autosome, the phenotype of X-linked epilepsy is more complex. X-linked epilepsy usually manifests as part of a syndrome or epileptic encephalopathy, and the variability of clinical manifestations of X-linked epilepsy may be attributed to several factors including the type of genetic mutation, methylation, X chromosome random inactivation, and mosaic distribution. As a result, it is difficult to establish the genotype-phenotype correlation, diagnostic tests, and genetic counseling. In this review, we provide an overview of the X-linked epilepsy including responsible loci and genes, the molecular biology, the associated complex phenotypes, and the interference factors. This information may provide us a better understanding of the pathogenesis of X-linked epilepsy and may contribute to clinical diagnosis and therapy of epilepsy.
癫痫是一组常见且多样的慢性神经系统疾病，其特征为自发、无端且反复发作的癫痫发作。环境因素和后天易感性被认为在癫痫的发病机制中起作用。遗传因素也是重要的促成因素。与常染色体上单基因突变异致癫痫的表型相比，X连锁癫痫的表型更为复杂。X连锁癫痫通常表现为综合征或癫痫性脑病的一部分，其临床表现的变异性可能归因于多种因素，包括基因突变类型、甲基化、X染色体随机失活和嵌合分布。因此，难以建立基因型与表型的相关性、诊断测试及遗传咨询。在本综述中，我们概述了X连锁癫痫，包括相关位点和基因、分子生物学、相关复杂表型及干扰因素。这些信息可能有助于我们更好地理解X连锁癫痫的发病机制，并有助于癫痫的临床诊断和治疗。
