PDF(Pubmed)
Abstract：
Developmental and epileptic encephalopathies comprise a heterogeneous group of monogenic neurodevelopmental disorders characterized by early-onset seizures, marked epileptic activity and abnormal neurocognitive development. The identification of an increasing number of underlying genetic alterations and their pathophysiological roles in cellular signaling drives the way toward novel precision therapies. The implementation of novel treatments that target the underlying mechanisms gives hope for disease modification that will improve not only the seizure burden but also the neurodevelopmental outcome of affected children. So far, beneficial effects are mostly reported in individual trials and small numbers of patients. There is a need for international collaborative studies to define the natural history and relevant outcome measures and to test novel pharmacological approaches.
摘要：
发育性和癫痫性脑病包括一组异质性的单基因神经发育障碍，其特征是早发性癫痫发作。明显的癫痫活动和异常的神经认知发育。越来越多的潜在遗传改变及其在细胞信号传导中的病理生理作用的鉴定推动了新型精确疗法的发展。针对潜在机制的新型治疗方法的实施为疾病的改变带来了希望，不仅可以改善癫痫发作负担，还可以改善受影响儿童的神经发育结果。到目前为止,有益效果主要在个别试验和少数患者中报告。需要国际合作研究来定义自然史和相关结果指标，并测试新的药理学方法。
