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青少年肌阵挛癫痫先证者及其一级亲属的临床与脑电图研究

Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy.

作者信息

Jayalakshmi S Sita, Mohandas S, Sailaja S, Borgohain Rupam

机构信息

Department of Neurology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad 500 082, Andhra Pradesh, India.

出版信息

Seizure. 2006 Apr;15(3):177-83. doi: 10.1016/j.seizure.2005.12.011. Epub 2006 Feb 21.

DOI:10.1016/j.seizure.2005.12.011
PMID:16495091
Abstract

PURPOSE

Juvenile myoclonic epilepsy (JME) is a common, well-defined epileptic syndrome. This study aims to examine the clinical and EEG features of probands with JME and to identify the incidence of different types of idiopathic generalized epilepsies (IGEs) and IGE trait in first-degree relatives.

METHODS

Clinical and EEG data were collected from 132 first-degree relatives and 31 probands with JME. The data were analyzed using descriptive statistics, chi-square test, t-test and ANOVA.

RESULTS

All probands had a history of generalized tonic clonic seizures (GTCS) and myoclonic jerks; 25.8% had a history of absence seizures. Family history of epilepsy was noted in 42% and epilepsy in first-degree relatives was reported in 38.7%. We found JME in 44% of the symptomatic first-degree relatives. The incidence of epilepsy was higher in siblings (19%) than in offspring (8%) or parents (4%), the difference between the groups being significant (p < 0.05). IGE trait was noted in 6% of the asymptomatic first-degree relatives. Finally, IGE features were found in 61%. Subjects with IGE features were younger (mean age 19.6 years) than those without IGE features (mean age 32.4 years) and the difference between the groups was significant.

CONCLUSION

The incidence of different kinds of IGEs and typical EEG trait is high in first-degree relatives of JME probands. IGE features were noted in 61% of the families. JME is the most common type of IGE and IGE features were found to be more frequent among siblings than parents. These findings confirm familial susceptibility to IGE.

摘要

目的

青少年肌阵挛癫痫(JME)是一种常见的、定义明确的癫痫综合征。本研究旨在探讨JME先证者的临床和脑电图特征,并确定一级亲属中不同类型特发性全身性癫痫(IGE)及IGE特质的发生率。

方法

收集了132名一级亲属和31名JME先证者的临床和脑电图数据。采用描述性统计、卡方检验、t检验和方差分析对数据进行分析。

结果

所有先证者均有全身强直阵挛发作(GTCS)和肌阵挛发作史;25.8%有失神发作史。42%的患者有癫痫家族史,38.7%报告一级亲属中有癫痫患者。我们在44%的有症状一级亲属中发现了JME。癫痫在兄弟姐妹中的发生率(19%)高于后代(8%)或父母(4%),组间差异有统计学意义(p < 0.05)。6%的无症状一级亲属有IGE特质。最后,61%的患者有IGE特征。有IGE特征的受试者(平均年龄19.6岁)比无IGE特征的受试者(平均年龄32.4岁)年轻,组间差异有统计学意义。

结论

JME先证者的一级亲属中不同类型IGE及典型脑电图特质的发生率较高。61%的家庭有IGE特征。JME是最常见的IGE类型,且IGE特征在兄弟姐妹中比在父母中更常见。这些发现证实了IGE的家族易感性。

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