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基于同胞清醒和睡眠脑电图记录的症状性癫痫的遗传学方面

[Genetic aspects of symptomatic epilepsy based on waking and sleep EEG recordings in siblings].

作者信息

Degen R, Degen H E

机构信息

Ehemahges Epilepsie-Zentrum Bethel, Bielefeld.

出版信息

Nervenarzt. 1993 Aug;64(8):504-10.

PMID:8413748
Abstract

Waking and sleep EEG-recordings were carried out in siblings of patients with various idiopathic and symptomatic seizure types. Rates of epileptic activity (e.a.) were found in the symptomatic ones varying between 24.1% (Complex partial seizures) and 46.7% (Symptomatic absences). 1/4 to 1/2 of the e.a. was recorded exclusively in sleep, so that sleep recordings are also necessary for such investigations. 2.5-4/sec. spike wave-complexes were predominantly seen; benign foci and photosensitivity were recorded in a smaller number of siblings. More e.a. was observed in idiopathic (72%) than in symptomatic absences (46.7%). On the other hand the same rates (42:41%) as well as almost the same EEG-patterns were found in idiopathic and symptomatic generalized tonic-clonic seizures. When counting the single epileptic discharges more e.a. was seen in siblings of patients with the idiopathic type than the symptomatic one (one discharge every 53 sec.:229.3 sec.). Most e.a. was found in the age group 6-14 years in siblings of all seizure types; therefore, this age dependent penetrance does not depend on the seizure type, but on the recorded spike wave-complexes, benign foci and photosensitivity which occur most frequently in this age range. A multi-factorial mode of inheritance is assumed.

摘要

对患有各种特发性和症状性癫痫发作类型患者的兄弟姐妹进行了清醒和睡眠脑电图记录。在症状性癫痫患者中发现癫痫活动率(e.a.)在24.1%(复杂部分性发作)至46.7%(症状性失神发作)之间变化。四分之一至二分之一的癫痫活动仅在睡眠中记录到,因此睡眠记录对于此类研究也是必要的。主要观察到2.5 - 4次/秒的棘波 - 复合波;在较少数量的兄弟姐妹中记录到良性病灶和光敏性。特发性癫痫患者中观察到的癫痫活动(72%)比症状性失神发作患者(46.7%)更多。另一方面,在特发性和症状性全身强直 - 阵挛性发作中发现了相同的比率(42:41%)以及几乎相同的脑电图模式。计算单个癫痫放电时,特发性癫痫患者的兄弟姐妹中观察到的癫痫活动比症状性癫痫患者更多(每53秒一次放电:229.3秒一次放电)。在所有癫痫发作类型患者的兄弟姐妹中,大多数癫痫活动出现在6 - 14岁年龄组;因此,这种年龄依赖性外显率不取决于癫痫发作类型,而是取决于在该年龄范围内最常出现的记录到的棘波 - 复合波、良性病灶和光敏性。假定为多因素遗传模式。

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