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特发性和症状性失神发作的一些遗传学方面:同胞的清醒和睡眠脑电图

Some genetic aspects of idiopathic and symptomatic absence seizures: waking and sleep EEGs in siblings.

作者信息

Degen R, Degen H E, Roth C

机构信息

Epilepsy Centre, Bethel, F.R.G.

出版信息

Epilepsia. 1990 Nov-Dec;31(6):784-94. doi: 10.1111/j.1528-1157.1990.tb05520.x.

Abstract

Epileptic activity was recorded in the waking and sleep EEG of 62.5% of 80 siblings of 38 patients with absence seizures. Epileptic discharges were noted in waking only in 8.7%, in waking as well as sleep in 28.8%, and in sleep only in 25%. Generalized, partly irregular, and slow spike-wave complexes were found, twice with lateral emphasis. Spike-wave complexes were recorded in 72% of 50 siblings of patients with idiopathic absence and in 46.7% of 30 siblings of patients with symptomatic absence. One epileptic discharge was observed every 108.6 s on the average, without striking differences between siblings of patients with idiopathic (99.7 s) and symptomatic absence (119.3 s). Without any differences between siblings of children with idiopathic and symptomatic absence, the most epileptic discharges were activated in sleep stages C and D, followed by stages A and B. The highest activation rate was observed in the 7-14-year-old group (73.5%) and to a somewhat lesser degree in the group between 15 and 20 years of age (66.7%); fewer epileptic discharges were recorded in younger (25%) and older patients (28.6%). The higher activation rates in the male sex were significant only in siblings of patients with idiopathic absence. Although only five patients (13.2%) were photosensitive, a photosensitivity was found in 24% of siblings of children with idiopathic absence and in 20% of siblings of patients with symptomatic absence. Three siblings of patients with idiopathic absence also had absence seizures; in one of them a febrile seizure occurred at an earlier age. All of them showed generalized spike wave discharges in waking as well as sleep. Occipital theta delta activity with generalization was observed more frequently in siblings of patients with idiopathic absence (82.2%) than in those of patients with symptomatic absence (63.6%). Our waking and sleep EEG recordings prove that concerning etiology-genetic factors play a striking role in idiopathic absence, but are also of considerable significance in the symptomatic types.

摘要

在38例失神发作患者的80名兄弟姐妹中,62.5%的人在清醒和睡眠脑电图中记录到癫痫活动。仅在清醒时记录到癫痫放电的占8.7%,在清醒和睡眠时均记录到的占28.8%,仅在睡眠时记录到的占25%。发现有全身性、部分不规则的慢棘波综合波,两次出现有侧方优势。在特发性失神患者的50名兄弟姐妹中,72%记录到棘波综合波;在症状性失神患者的30名兄弟姐妹中,46.7%记录到棘波综合波。平均每108.6秒观察到一次癫痫放电,特发性失神患者的兄弟姐妹(99.7秒)和症状性失神患者的兄弟姐妹(119.3秒)之间无明显差异。特发性和症状性失神患儿的兄弟姐妹之间无任何差异,癫痫放电在睡眠C期和D期最易被激活,其次是A期和B期。癫痫放电激活率最高的是7至14岁组(73.5%),15至20岁组(66.7%)略低;年龄较小(25%)和较大患者(28.6%)记录到的癫痫放电较少。男性较高的激活率仅在特发性失神患者的兄弟姐妹中具有统计学意义。虽然只有5例患者(13.2%)有光敏性,但在特发性失神患儿的24%的兄弟姐妹和症状性失神患者的20%的兄弟姐妹中发现有光敏性。3名特发性失神患者的兄弟姐妹也有失神发作;其中1人早年有热性惊厥。他们所有人在清醒和睡眠时均显示全身性棘波放电。特发性失神患者的兄弟姐妹中枕叶θ波-δ波活动伴泛化比症状性失神患者的兄弟姐妹更常见(82.2%比63.6%)。我们的清醒和睡眠脑电图记录证明,就病因而言,遗传因素在特发性失神中起显著作用,但在症状性类型中也具有相当重要的意义。

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