Genetics of idiopathic generalized epilepsies
Genetics of idiopathic generalized epilepsies
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DOI：
10.1111/j.1528-1167.2005.00310.x
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发表时间：
2005-01-01
期刊：
影响因子：
5.6
通讯作者：
Gardiner, M
中科院分区：
文献类型：
--
作者：
Gardiner, M
特发性全身性癫痫（IGEs）被认为主要是遗传起源。它们包括一些罕见的孟德尔或单基因癫痫和更常见的形式，这是家族性的，但表现为复杂的，非孟德尔性状。最近的研究表明，许多单基因IGE是离子通道病。这些包括由于KCNQ2或KCNQ3突变引起的良性家族性新生儿惊厥，由于SCN 1A、SCN 2A、SCN 1B和GABRG2突变引起的全身性癫痫伴热性惊厥，由于GABRA1突变和与几种IGE亚型相关的CLCN 2突变引起的常染色体显性青少年肌阵挛性癫痫（JME）。在了解非孟德尔式政府间专家组方面也取得了进展。苹果酸酶2基因的单倍型ME2增加了纯合状态下IGE的风险。在44个JME家族中的6个家族中发现了EFHC 1的5个错义突变。在中国汉族人群中，在散发的儿童失神癫痫患者中发现了CACNA1H的罕见序列变异。这些进展应该导致新的诊断和治疗方法。
The idiopathic generalized epilepsies (IGEs) are considered to be primarily genetic in origin. They encompass a number of rare mendelian or monogenic epilepsies and more common forms which are familial but manifest as complex, non-mendelian traits. Recent advances have demonstrated that many monogenic IGEs are ion channelopathies. These include benign familial neonatal convulsions due to mutations in KCNQ2 or KCNQ3, generalized epilepsy with febrile seizures plus due to mutations in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile myoclonic epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types. There has also been progress in understanding the non-mendelian IGEs. A haplotype in the Malic Enzyme 2 gene, ME2, increases the risk for IGE in the homozygous state. Five missense mutations have been identified in EFHC1 in 6 of 44 families with JME. Rare sequence variants have been identified in CACNA1H in sporadic patients with childhood absence epilepsy in the Chinese Han population. These advances should lead to new approaches to diagnosis and treatment.