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Developmental and epileptic encephalopathies: Is prognosis related to different epileptic network dysfunctions?
Epilepsy & Behavior ( IF 2.3 ) Pub Date : 2021-01-01 , DOI: 10.1016/j.yebeh.2020.107654
Jainn-Jim Lin , Stefano Meletti , Anna Elisabetta Vaudano , Kuang-Lin Lin

Developmental and epileptic encephalopathies are a group of rare, severe epilepsies, which are characterized by refractory seizures starting in infancy or childhood and developmental delay or regression. Developmental changes might be independent of epilepsy. However, interictal epileptic activity and seizures can further deteriorate cognition and behavior. Recently, the concept of developmental and epileptic encephalopathies has moved from the lesions associated with epileptic encephalopathies toward the epileptic network dysfunctions on the functioning of the brain. Early recognition and differentiation of patients with developmental and epileptic encephalopathies is important, as precision therapies need to be holistic to address the often devastating symptoms. In this review, we discuss the evolution of the concept of developmental and epileptic encephalopathies in recent years, as well as the current understanding of the genetic basis of developmental and epileptic encephalopathies. Finally, we will discuss the role of epileptic network dysfunctions on prognosis for these severe conditions.

中文翻译:

发育性和癫痫性脑病:预后是否与不同的癫痫网络功能障碍有关?

发育性和癫痫性脑病是一组罕见的严重癫痫,其特征是从婴儿期或儿童期开始的难治性癫痫发作以及发育迟缓或退化。发育变化可能与癫痫无关。然而,发作间期的癫痫活动和癫痫发作会进一步恶化认知和行为。最近,发育性和癫痫性脑病的概念已经从与癫痫性脑病相关的病变转向大脑功能的癫痫网络功能障碍。早期识别和区分患有发育性和癫痫性脑病的患者很重要,因为精准治疗需要全面解决通常具有破坏性的症状。在本次审查中,我们讨论了近年来发育性和癫痫性脑病概念的演变,以及目前对发育性和癫痫性脑病的遗传基础的理解。最后,我们将讨论癫痫网络功能障碍对这些严重疾病预后的作用。
更新日期:2021-01-01
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