The new concept of developmental and epileptic encephalopathy is based on the understanding that many genetic epilepsies are associated with developmental impairment as a direct consequence of the genetic mutation, in addition to the effect of the frequent epileptic activity on brain development. As an example, in infants with KCNQ2 or STXBP1 encephalopathy, seizures may be controlled early after onset or cease spontaneously after a few years, but the developmental consequences tend to remain profound. The term “developmental and epileptic encephalopathy” expresses the concept that the genetic defect may be responsible for both the epilepsy and adverse development which is crucial to understanding the disease process for both families and clinicians. The increased use of EEG monitoring, neuroimaging, and metabolic and genetic testing in the Neonatal Intensive Care Unit has greatly improved our understanding of neonatal-onset epilepsies as seen with the syndromes Ohtahara and Early Myoclonic Encephalopathy outlined in the 1970s into distinct etiology-specific electroclinical phenotypes.

发育性和癫痫性脑病的新概念是基于这样的理解，除了频繁的癫痫活动对大脑发育的影响外，许多遗传性癫痫病都是遗传突变的直接结果，与发育障碍有关。例如，在患有KCNQ2或STXBP1脑病的婴儿中，癫痫发作可在发病后早期得到控制，或在几年后自发停止，但发展后果往往仍然很深。术语“发育性和癫痫性脑病”表示遗传缺陷可能导致癫痫和不良发育的概念，这对于了解家庭和临床医生的疾病过程至关重要。脑电图监测，神经影像学，