Genetics of idiopathic epilepsies
Genetics of idiopathic epilepsies
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DOI：
10.1111/j.0013-9580.2005.461011.x
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发表时间：
2005-01-01
期刊：
影响因子：
5.6
通讯作者：
Kaneko, S
中科院分区：
文献类型：
--
作者：
Hirose, S;Mitsudome, A;Kaneko, S
目的：寻找常见特发性癫痫综合征的分子遗传学线索。方法：对近年来发现的遗传性癫痫综合征的遗传缺陷进行综述。结果：在常染色体显性遗传夜间额叶癫痫患者中发现了编码神经元型烟碱乙酰胆碱受体（nano-acetylcholine receptor，NACR）两个亚单位的基因突变。在良性家族性新生儿惊厥中发现了两个K+通道基因的突变。编码电压门控Na+通道和γ-氨基丁酸（GABA）A受体的几个亚基的基因突变也被确定为各种癫痫综合征的根本原因，如常染色体显性癫痫伴热性惊厥附加、良性家族性新生儿婴儿惊厥和常染色体显性青少年肌阵挛性癫痫。同一基因内的突变可能导致不同的癫痫表型。因此，Na+通道、GABA（A）受体及其辅助物可能参与了各种类型癫痫的发病机制。某些形式的青少年肌阵挛性癫痫、特发性全身性癫痫和失神癫痫可能是由Ca 2+通道突变引起的。最近发现Cl通道的突变与某种类型的癫痫有关。最近发现，突变的LGI 1，基因编码的非通道分子，与常染色体部分性癫痫与听觉功能可能提供了一个新的见解，我们了解的遗传学特发性epilepsy.Conclusions：这些研究结果表明，参与脑通道病变的发病机制，某些类型的特发性癫痫。
Purpose: To search for clues to molecular genetics of common idiopathic epilepsy syndromes. Genetic defects have been identified recently in certain inherited epilepsy syndromes in which the phenotypes are similar to those of common idiopathic epilepsies.Methods: Mutations identified as the causes of inherited idiopathic epilepsies were reviewed.Results: Mutations of the genes encoding two subunits of the neuronal nicotinic acetylcholine receptor were found in autosomal dominant nocturnal frontal lobe epilepsy. Mutations of two K+ -channel genes were identified in benign familial neonatal convulsions. Mutations of the genes encoding several subunits of the voltage- gated Na+ -channel and gamma-aminobutyric acid (GABA) A receptor also were identified as the underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with febrile seizures plus, benign familial neonatal infantile seizures, and autosomal dominant juvenile myoclonic epilepsy. Mutations within the same gene may result in different epilepsy phenotypes. Thus, the Na+ channel, GABA(A) receptor, and their auxiliaries may be involved in the pathogenesis of various types of epilepsy. Some forms of juvenile myoclonic epilepsy, idiopathic generalized epilepsy, and absence epilepsy may result from mutations of Ca2+ channels. Mutations of the Cl channel have been recently found to be associated with a certain type of epilepsy. The recent discovery that mutations of LGI1, a gene encoding a nonchannel molecule, are associated with autosomal partial epilepsy with auditory features may provide a new insight into our understanding of the genetics of idiopathic epilepsy.Conclusions: These findings suggest the involvement of brain channelopathies in the pathogenesis of certain types of idiopathic epilepsy.