The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to understanding the most severe group of epilepsies. An epileptic encephalopathy is defined by the presence of frequent epileptiform activity that impacts adversely on development, typically causing slowing or regression of developmental skills, and usually associated with frequent seizures. Many of the epileptic encephalopathies are now known to have an identifiable molecular genetic basis. The term 'developmental' was introduced as there are multiple facets leading to developmental impairment in affected individuals. The underlying genetic cause often results in developmental delay in its own right, with the epileptic encephalopathy further adversely affecting development. Treatment of the epileptic encephalopathy may improve developmental progress, so early recognition and active management are essential to improve developmental outcomes. Equally, understanding that the genetic aetiology independently leads to developmental impairment means that precision therapies need to be holistic in addressing the devastating consequences of this group of diseases.

中文翻译：

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解读“癫痫性脑病”和“发育性和癫痫性脑病”背后的概念

国际抗癫痫联盟最近引入了“发育性和癫痫性脑病”这一术语，为理解最严重的癫痫组增加了另一个概念层面。癫痫性脑病的定义是频繁的癫痫样活动对发育产生不利影响，通常会导致发育技能减慢或退化，并且通常与频繁癫痫发作有关。现在已知许多癫痫性脑病具有可识别的分子遗传基础。引入“发育”一词是因为有多个方面会导致受影响个体的发育障碍。潜在的遗传原因通常会导致发育迟缓，与癫痫性脑病进一步不利地影响发育。癫痫性脑病的治疗可能会改善发育进程，因此早期识别和积极管理对于改善发育结果至关重要。同样，了解遗传病因独立导致发育障碍意味着精准疗法需要全面解决这组疾病的破坏性后果。