Genes associated with idiopathic epilepsies: a current overview
Genes associated with idiopathic epilepsies: a current overview
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DOI：
10.1179/174313209x393942
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发表时间：
2009-03-01
影响因子：
1.9
通讯作者：
Wang, Xuefeng
中科院分区：
文献类型：
--
作者：
Lu, Yang;Wang, Xuefeng
目的：本文旨在回顾与特发性局灶性和全身性癫痫相关的最新基因。方法：使用与基因相关的特定关键词和与特发性癫痫综合征相关的各种列出的子主题进行PubMed和PubMed Gene检索。结果：在常染色体显性夜间额叶癫痫中发现了胆碱能受体、神经元烟碱、α 2、α 4和β 2亚单位基因的突变。钾电压门控通道KQT样亚家族成员2和3基因的突变与良性家族性新生儿癫痫发作有关。电压门控钠通道基因和γ-氨基丁酸受体a亚单位基因可能参与了全面性癫痫伴热性惊厥附加的发病机制。γ-氨基丁酸受体α 1、γ-氨基丁酸受体δ、钙通道电压依赖性β 4亚基和氯通道2基因突变与青少年肌阵挛性癫痫相关。此外，富含亮氨酸的胶质瘤失活1基因的突变导致家族性侧颞叶癫痫的遗传异常。EF-手结构域（C-末端）包含1基因可以引起青少年肌阵挛和青少年失神癫痫的一些模式。讨论：遗传因素在特发性癫痫综合征中起重要作用。离子通道基因和一些非离子通道基因参与了特发性癫痫的发病机制。基于这些发现，基因诊断和新的治疗策略，
Objective: This article aimed to review the latest genes associated with idiopathic focal and generalized epilepsies.Methods: PubMed and Entrez Gene searches pertaining to this work was conducted using specific keyword search terms related to genes and various listed subtopics related to idiopathic epilepsy syndromes.Results: Mutations in the cholinergic receptor, neuronal nicotinic, alpha 2, alpha 4 and beta 2 subunit genes have been found in autosomal dominant nocturnal frontal lobe epilepsy. Mutations of potassium voltage-gated channel, KQT-like subfamily, members 2 and 3 genes were identified to be responsible for benign familial neonatal seizures. The voltage-gated sodium channel genes and gamma-aminobutyric acid receptor a subunit genes may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus. Mutations of gamma-aminobutyric acid receptor alpha 1, gamma-aminobutyric acid receptor delta, calcium channel voltage-dependent beta 4 subunit and chloride channel 2 gene are associated with juvenile myoclonic epilepsy. In addition, mutations of leucine-rich, glioma-inactivated 1 gene leads to genetic abnormalities of familial lateral temporal lobe epilepsy. EF-hand domain (C-terminal)-containing 1 gene can cause some patterns of juvenile myoclonic and juvenile absence epilepsies.Discussion: Genetic factors play an important role in idiopathic epilepsy syndromes. Ion channel genes and some non-ion channel genes contribute to the pathogenesis of idiopathic epilepsies. Based on these findings, genetic diagnosis and new treatment strategies to