Doose H
Abteilung für Neuropaediatrie der Universität, Kiel, Federal Republic of Germany.
Eur J Pediatr. 1989 Dec;149(3):210-5. doi: 10.1007/BF01958285.
The purpose of the study was to identify the clinical symptomatology of children with focal sharp waves of genetic nature. Genetic determination was assumed if the EEG of at least one sib revealed typical focal sharp waves. Forty-one probands (27 boys, 14 girls) and their 44 sibs showed a broad spectrum of different seizure types of focal origin including so-called atypical benign partial epilepsy (pseudo-Lennox-syndrome) and febrile convulsions. Numerous cases showed psychomental retardation or selective deficits of development. The classical syndrome of rolandic seizures with normal psychomental development and normal neurological findings was present in only a few cases. Similarly, EEG findings were quite variable. Rolandic sharp wave foci alone were found in only 22% of the probands. The remainder had foci in other regions (17%), or multiple foci (61%). Depending on age at first seizure, 42%-79% of the seizure-affected probands and 50% of the affected sibs showed generalized heritable EEG traits such as 4-7/s rhythms, generalized irregular spikes and waves, and/or photoparoxysmal response. Three pairs of monozygotic twins were concordant for the special type of EEG findings, two of them also for clinical symptoms.
该研究的目的是确定具有遗传性局灶性尖波的儿童的临床症状学。如果至少一个同胞的脑电图显示典型的局灶性尖波，则假定为遗传决定因素。41名先证者（27名男孩，14名女孩）及其44名同胞表现出广泛的不同类型的局灶性起源癫痫发作，包括所谓的非典型良性部分性癫痫（假性 Lennox 综合征）和热性惊厥。许多病例表现出精神发育迟滞或选择性发育缺陷。仅有少数病例出现具有正常精神发育和正常神经学检查结果的罗兰多癫痫经典综合征。同样，脑电图结果差异很大。仅22%的先证者发现单独的罗兰多尖波灶。其余患者在其他区域有病灶（17%）或多个病灶（61%）。根据首次发作时的年龄，42%-79%的受癫痫发作影响的先证者和50%的受影响同胞表现出全身性遗传性脑电图特征，如4-7次/秒节律、全身性不规则棘波和慢波，和/或光阵发性反应。三对同卵双胞胎在特殊类型的脑电图结果上是一致 的，其中两对在临床症状上也是一致的。
