Jallon Pierre, Latour Patrick
Epilepsy and EEG Unit, University Hospital, CH 1211, Geneva 14, Switzerland.
Epilepsia. 2005;46 Suppl 9:10-4. doi: 10.1111/j.1528-1167.2005.00309.x.
Idiopathic generalized epilepsies (IGEs) are a relatively new category of disorders defined by strict clinical and electroencephalogram (EEG) features proposed by the International League Against Epilepsy (ILAE) classification of epileptic syndromes. IGEs are usually easy to diagnose when clinical and EEG data are collected, but epilepsy is not synonymous with epileptic syndrome. So far, IGEs are studied in the large group of epilepsies of undetermined or unknown etiology although the genetic origin is now largely accepted. ILAE-proposed criteria are helpful in the clinical and therapeutic management of IGEs, but many epidemiologic studies still confuse the cryptogenic and idiopathic groups. Some syndromes in childhood, which are completely described by strict electroclinical criteria such as the absence epilepsies, juvenile myoclonic epilepsies, are usually included and analyzed in epidemiologic studies; however, other epileptic syndromes observed in infancy, such as benign familial neonatal seizures and benign myoclonic epilepsy in infancy, are quite rare and are usually excluded from epidemiologic surveys because they are difficult to describe completely in electro-clinical terms. Another strong limitation in the study of epidemiology of IGEs is the lack of EEG data, either because EEG is not available or the routine EEG is normal. This is particularly relevant in the inclusion of patients with only tonic-clonic seizures. IGEs encompass several different syndromes, and a few patients shift from one phenotype to another. The overlapping of some syndromes during infancy and adolescence increased the difficulty to individualize strictly the correct syndrome. Many discrepancies can be observed in the distribution of the different syndromes included in the group of IGEs, because the strict criteria for classifying these syndromes proposed by the ILAE are often not respected. With this understanding, the general frequency of IGEs can be assessed at 15-20% of all epilepsies. The frequency and the distribution of incidence and prevalence of the different syndromes are tentatively reported and discussed. When the term idiopathic is used following the restrictive ILAE criteria, the mortality data concerning patients with idiopathic epilepsies do not show an increased standardized mortality ratio.
特发性全身性癫痫（IGEs）是一类相对较新的疾病，由国际抗癫痫联盟（ILAE）癫痫综合征分类所提出的严格临床和脑电图（EEG）特征来定义。当收集到临床和EEG数据时，IGEs通常易于诊断，但癫痫并不等同于癫痫综合征。到目前为止，尽管现在大多数学者认可其遗传起源，但IGEs仍在一大组病因未明或未知的癫痫中进行研究。ILAE提出的标准有助于IGEs的临床和治疗管理，但许多流行病学研究仍将隐源性和特发性组混淆。一些在儿童期的综合征，如失神癫痫、青少年肌阵挛癫痫等，可通过严格的电临床标准完全描述，通常会纳入流行病学研究并进行分析；然而，在婴儿期观察到的其他癫痫综合征，如良性家族性新生儿惊厥和婴儿良性肌阵挛癫痫，相当罕见，通常被排除在流行病学调查之外，因为它们很难用电临床术语完全描述清楚。IGEs流行病学研究的另一个严重局限是缺乏EEG数据，这要么是因为无法获得EEG，要么是因为常规EEG正常。这在仅纳入强直阵挛发作患者时尤为突出。IGEs包含几种不同的综合征，少数患者会从一种表型转变为另一种表型。婴儿期和青春期一些综合征的重叠增加了严格区分正确综合征的难度。在IGEs组中不同综合征的分布存在许多差异，因为ILAE提出的这些综合征分类的严格标准常常未得到遵循。基于这种认识，IGEs在所有癫痫中的总体发生率可评估为15% - 20%。本文初步报告并讨论了不同综合征的发病率和患病率的频率及分布情况。当按照严格的ILAE标准使用“特发性”一词时，特发性癫痫患者的死亡率数据并未显示标准化死亡率增加。
