Callenbach Petra M C, van den Maagdenberg Arn M J M, Frants Rune R, Brouwer Oebele F
Department of Neurology, University Medical Centre Groningen, Hanzeplein 1/P.O. Box 30001, 9700 RB Groningen, The Netherlands.
Eur J Paediatr Neurol. 2005;9(2):91-103. doi: 10.1016/j.ejpn.2004.12.005.
The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels or functionally related structures. For many other idiopathic syndromes, there is linkage evidence to one or more chromosomes, but the genes have not yet been identified. Identification of the responsible genes and their gene products will further increase the knowledge of the pathogenic mechanisms involved in epilepsy, and will hopefully facilitate the development of drug targets for the effective treatment of epilepsy. This review gives an overview of the clinical characteristics and an update of genetic research of those idiopathic childhood epilepsies for which genes have been identified and the monogenic idiopathic childhood epilepsies for which mapping data are available.
首次鉴定出与特发性癫痫相关的基因是癫痫研究领域的一项重要突破。几乎在所有病例中，这些基因都被发现编码电压门控或配体门控离子通道的组成部分或功能相关结构。对于许多其他特发性综合征，有证据表明与一条或多条染色体存在连锁关系，但相关基因尚未被鉴定出来。确定致病基因及其基因产物将进一步增进我们对癫痫发病机制的了解，并有望推动开发有效治疗癫痫的药物靶点。本综述概述了已鉴定出相关基因的特发性儿童癫痫以及有定位数据的单基因特发性儿童癫痫的临床特征，并介绍了其遗传研究的最新进展。
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