AUTOSOMAL-DOMINANT ROLANDIC EPILEPSY AND SPEECH DYSPRAXIA - A NEW SYNDROME WITH ANTICIPATION
AUTOSOMAL-DOMINANT ROLANDIC EPILEPSY AND SPEECH DYSPRAXIA - A NEW SYNDROME WITH ANTICIPATION
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DOI：
10.1002/ana.410380412
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发表时间：
1995-10-01
影响因子：
11.2
通讯作者：
BERKOVIC, SF
中科院分区：
文献类型：
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作者：
SCHEFFER, IE;JONES, L;BERKOVIC, SF
我们描述了一个三代共9人的家族，他们有夜间的口-面-臂部分癫痫发作，继发性全身性部分癫痫发作和中央-颞叶癫痫样放电，并伴有口语和言语障碍和认知障碍。言语障碍较为突出，但与朗道-克莱夫纳综合征及慢波睡眠持续峰波型癫痫不同。这种常染色体显性罗兰性癫痫新综合征的电临床特征类似于良性罗兰性癫痫，一种常见的儿童遗传性癫痫。该家族表现出癫痫发作障碍、口腔言语运动障碍和认知功能障碍的临床预期。提示遗传机制可能是不稳定的三联体重复扩增。在遗传模式明确的情况下，对这种综合征的分子研究也可能与确定良性罗兰性癫痫的基因有关，在这种情况下，预期不会发生，遗传模式也不确定。
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.