Department of Neuroscience, Bambino Gesu Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Piazza S, 00165 Rome, Italy.
Systems Medicine Department, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, 00133 Rome, Italy.
Brain. 2021 Feb 12;144(1):32-43. doi: 10.1093/brain/awaa371.
Developmental encephalopathies, including intellectual disability and autistic spectrum disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to describe an assumed causal relationship between epilepsy and developmental delay. Developmental encephalopathies pathogenesis more independent from epilepsy is supported by the identification of several gene variants associated with both developmental encephalopathies and epilepsy, the possibility for gene-associated developmental encephalopathies without epilepsy, and the continued development of developmental encephalopathies even when seizures are controlled. Hence, 'developmental and epileptic encephalopathy' may be a more appropriate term than epileptic encephalopathy. This update considers the best studied 'developmental and epileptic encephalopathy' gene variants for illustrative support for 'developmental and epileptic encephalopathy' over epileptic encephalopathy. Moreover, the interaction between epilepsy and developmental encephalopathies is considered with respect to influence on treatment decisions. Continued research in genetic testing will increase access to clinical tests, earlier diagnosis, better application of current treatments, and potentially provide new molecular-investigated treatments.
发育性脑病，包括智力障碍和自闭症谱系障碍，常与婴儿癫痫有关。癫痫性脑病用于描述癫痫与发育迟缓之间的假定因果关系。发育性脑病的发病机制与癫痫更为独立，这得到了几个与发育性脑病和癫痫都相关的基因变异的支持，也支持了基因相关的发育性脑病而无癫痫的可能性，以及即使控制了癫痫发作，发育性脑病仍会持续发展。因此，“发育性和癫痫性脑病”可能是比癫痫性脑病更合适的术语。本更新考虑了研究最多的“发育性和癫痫性脑病”基因变异，以支持“发育性和癫痫性脑病”而不是癫痫性脑病。此外，还考虑了癫痫与发育性脑病之间的相互作用，以影响治疗决策。遗传检测的持续研究将增加对临床检测的可及性、更早的诊断、更好地应用现有治疗方法，并可能提供新的分子研究治疗方法。
