Department of Human Biology, International Medical University, No. 126 Jalan Jalil Perkasa 19, Bukit Jalil, Kuala Lumpur, Malaysia.
J Hum Genet. 2012 May;57(5):283-5. doi: 10.1038/jhg.2012.29. Epub 2012 Mar 29.
Lafora progressive myoclonus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early adolescence. LD is characterized by recurrent epileptic seizures and progressive decline in intellectual function. LD can be caused by defects in any of the two known genes and the clinical features of these two genetic groups are almost identical. The past one decade has witnessed considerable success in identifying the LD genes, their mutations, the cellular functions of gene products and on molecular basis of LD. Here, we briefly review the current literature on the phenotype variations, on possible presence of genetic modifiers, and candidate modifiers as targets for therapeutic interventions in LD.
拉佛拉进行性肌阵挛性癫痫，又称拉佛拉病（LD），是进行性肌阵挛性癫痫中最严重和致命的形式，其典型发病年龄在儿童晚期或青春期早期。LD 的特征是反复癫痫发作和智力功能进行性下降。LD 可由两个已知基因中的任何一个缺陷引起，这两个遗传组的临床特征几乎相同。在过去的十年中，人们在确定 LD 基因、其突变、基因产物的细胞功能以及 LD 的分子基础方面取得了相当大的成功。在这里，我们简要回顾了关于 LD 的表型变异、可能存在的遗传修饰因子以及候选修饰因子作为治疗干预靶点的最新文献。
