国际抗癫痫联盟认可的特发性全身性癫痫

Idiopathic generalized epilepsies recognized by the International League Against Epilepsy.

作者信息

Nordli Douglas R

机构信息

Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA.

出版信息

Epilepsia. 2005;46 Suppl 9:48-56. doi: 10.1111/j.1528-1167.2005.00313.x.

Abstract

There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only. All of these syndromes can be easily diagnosed when distinctive features are present. In some cases, such features are not present or only appear later in the course of the disease, making it challenging to distinguish the various syndromes. Electroencephalogram (EEG) is the most helpful laboratory test and often will strongly support the diagnosis of IGE, but may not be very helpful in discriminating between several of the syndromes with overlapping features. The same applies for genetic testing, although it is expected that further research exploring the genotype-phenotype relationships will enhance our abilities to make definitive diagnoses. At the current time, clinical features are still the cornerstone of accurate classification, and accurate classification, in turn, is the best predictor of outcome.

摘要

目前,国际抗癫痫联盟(ILAE)认可的有八种综合征符合特发性全身性癫痫(IGE)综合征的原始操作定义,包括婴儿良性肌阵挛癫痫;伴有热性惊厥附加症的全身性癫痫,这是一种正在演变的病症;肌阵挛失神癫痫;肌阵挛-无张力发作癫痫;儿童失神癫痫;青少年失神癫痫;青少年肌阵挛癫痫;以及仅伴有全身性强直-阵挛发作的癫痫。当出现特征性表现时,所有这些综合征都能很容易地被诊断出来。在某些情况下,这些特征并不存在,或者仅在疾病过程中较晚出现,这使得区分各种综合征具有挑战性。脑电图(EEG)是最有用的实验室检查,通常会有力地支持IGE的诊断,但在区分几种具有重叠特征的综合征时可能帮助不大。基因检测也是如此,不过预计进一步探索基因型-表型关系的研究将提高我们做出明确诊断的能力。目前,临床特征仍然是准确分类的基石,而准确分类反过来又是预后的最佳预测指标。

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