Syrbe Steffen
Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Med Genet. 2022 Sep 22;34(3):215-224. doi: 10.1515/medgen-2022-2145. eCollection 2022 Oct.
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.
发育性和癫痫性脑病是一组异质性单基因神经发育障碍，其特征为早发性癫痫发作、明显的癫痫活动和异常的神经认知发育。越来越多潜在基因改变及其在细胞信号传导中的病理生理作用的发现，推动了新型精准治疗方法的发展。针对潜在机制的新型治疗方法的实施，为疾病改善带来了希望，这不仅能减轻癫痫发作负担，还能改善受影响儿童的神经发育结局。到目前为止，有益效果大多在个别试验和少数患者中报道。需要开展国际合作研究，以明确疾病自然史和相关结局指标，并测试新型药理学方法。
