Kluger G, Böhm I, Laub M C, Waldenmaier C
Neuropediatric Department, Behandlungszentrum Vogtareuth, Germany.
Pediatr Neurol. 1996 Nov;15(4):358-60. doi: 10.1016/s0887-8994(96)00251-2.
We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular genetic analysis of the fragile X mental retardation-1 gene in 16 children with benign childhood epilepsy with centrotemporal spikes (BECT, Rolandic epilepsy). Fourteen young male patients with fragile X syndrome, verified by a full mutation in exon 1 of the fragile X mental retardation-1 gene, were studied by electroencephalography. In eight boys aged between 4-8 years we observed focal sharp waves, activated by sleep. In six of these patients, partial seizures occurred during sleep. We detected no epileptiform electroencephalographic abnormalities under the age of 4 and over the age of 8. In 16 children with Rolandic epilepsy who were studied for fragile X gene mutations, one boy proved to carry a fragile X premutation. In the waking state electroencephalography of a 5-year-old girl with a premutation in one of her fragile X mental retardation-1 genes, we found groups of generalized spike wave complexes. Our observations suggest a possible impact of the fragile X mental retardation-1 gene mutations on brain maturation and epileptogenesis.
我们采用了两种策略来研究癫痫易感性与脆性X智力低下1基因（FMR1）突变之间的可能联系。第一种策略是对14名FMR1基因扩增的患者进行脑电图检查，第二种策略是对16名患有儿童良性中央颞区棘波癫痫（BECT，罗兰多癫痫）的儿童进行FMR1基因的分子遗传学分析。通过对FMR1基因外显子1的完全突变验证，对14名患有脆性X综合征的年轻男性患者进行了脑电图研究。在8名年龄在4至8岁之间的男孩中，我们观察到了由睡眠激活的局灶性尖波。其中6名患者在睡眠期间发生了部分性癫痫发作。在4岁以下和8岁以上的患者中，我们未检测到癫痫样脑电图异常。在对16名患有罗兰多癫痫的儿童进行FMR1基因突变研究时，发现一名男孩携带脆性X前突变。在对一名FMR1基因存在前突变的5岁女孩进行清醒状态脑电图检查时，我们发现了成群的广泛性棘慢复合波。我们的观察结果表明，FMR1基因突变可能对大脑成熟和癫痫发生有影响。
