Scheffer I E, Jones L, Pozzebon M, Howell R A, Saling M M, Berkovic S F
Department of Neurology, Austin Hospital, Heidelberg, Melbourne, Australia.
Ann Neurol. 1995 Oct;38(4):633-42. doi: 10.1002/ana.410380412.
We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain.
我们描述了一个三代9名受累个体的家系，他们有夜间口面部-臂部部分性癫痫发作、继发性全身性部分性癫痫发作以及中央颞区癫痫样放电，伴有口腔和言语运用障碍及认知损害。言语障碍较为突出，但不同于Landau-Kleffner综合征以及慢波睡眠期持续棘慢波癫痫的言语障碍。这种常染色体显性遗传性罗兰多癫痫新综合征的电临床特征类似于儿童常见的遗传性癫痫——良性罗兰多癫痫。该家系显示癫痫发作疾病、口腔和言语运用障碍以及认知功能障碍存在临床遗传早现现象，提示遗传机制可能是不稳定三联体重复序列的扩增。对这种遗传模式明确的综合征进行分子研究，也可能有助于确定良性罗兰多癫痫的致病基因，而良性罗兰多癫痫不存在遗传早现现象且遗传方式尚不确定。
