Wolf P
Epilepsie-Zentrum Bethel, Klinik für Anfallskranke, Bielefeld, Germany.
Epilepsy Res Suppl. 1996;11:141-51.
To combine both clinical and experimental findings into comprehensive nosological theories is a novel approach in epileptology, the adoption of which seems highly advisable for future research. A selection of problems concerning some well-known epilepsy syndromes are presented which could profit from such an approach. In idiopathic epilepsies, both generalized and localization-related, there seems to be an astonishing amount of variability beyond the acknowledged syndromes when these are looked at in detail. Much of this variance seems to be the consequence of regional expression of the genes which are certainly involved in their pathogenesis. Some of the involved genes seem to have not only a spatial but also a temporal limit of action. In symptomatic and cryptogenic 'generalized' epilepsies the rôle of focal etiological factors needs to be clarified as well as the question why their phenotype seems to depend more upon the manifestation age than the etiology. In relation to the symptomatic and cryptogenic focal epilepsies, it becomes more and more intriguing whether they are all due to more or less identical interactions of a set of basic mechanisms or whether foci in different cortical areas differ in this respect. It appears that there are many syndrome-related or syndrome-specific differences in the rôle of basic mechanisms in human epilepsies. A better understanding of these differences could become most helpful for the development of more specific and more effective therapies.
将临床和实验结果整合为全面的疾病分类学理论是癫痫学中的一种新方法,采用这种方法对未来研究似乎非常可取。本文介绍了一些与某些著名癫痫综合征相关的问题,这些问题可能会从这种方法中受益。在特发性癫痫中,无论是全身性的还是局灶性相关的,当详细研究这些公认的综合征时,似乎存在超出其范围的惊人变异性。这种变异很大一部分似乎是某些肯定参与其发病机制的基因区域表达的结果。一些相关基因似乎不仅具有空间作用限制,还具有时间作用限制。在症状性和隐源性“全身性”癫痫中,局灶性病因因素的作用以及其表型为何似乎更多地取决于发病年龄而非病因的问题都需要阐明。关于症状性和隐源性局灶性癫痫,它们是否都归因于一组基本机制的或多或少相同的相互作用,或者不同皮质区域的病灶在这方面是否存在差异,这变得越来越引人关注。似乎在人类癫痫中,基本机制的作用存在许多与综合征相关或特定于综合征的差异。更好地理解这些差异可能对开发更具体、更有效的治疗方法非常有帮助。