Tavyev Asher Y Jane, Scaglia Fernando
Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.
Eur J Med Genet. 2012 May;55(5):299-306. doi: 10.1016/j.ejmg.2012.04.002. Epub 2012 Apr 22.
Epilepsy can be a challenging diagnosis to make in the neonatal and infantile periods. Seizures in this age group may be due to a serious underlying cause that results in an epileptic encephalopathy. Early infantile epileptic encephalopathy (EIEE) is a progressive neurologic condition that exhibits concomitant cognitive and motor impairment, and is often associated with severe intellectual disability. This condition belongs to the group of age-dependent epileptic encephalopathies, and thus the clinical and electro-encephalographic features change with age as the central nervous system evolves. The molecular bases and the clinical spectrum associated with the early infantile epileptic encephalopathies continue to expand as new genetic discoveries are made. This review will highlight the molecular etiologies of early infantile epileptic encephalopathy, and the clinical and electro-encephalographic changes that take place in these epileptic phenotypes as the brain develops.
癫痫在新生儿期和婴儿期可能是一个具有挑战性的诊断。这个年龄组的癫痫发作可能是由导致癫痫性脑病的严重潜在病因引起的。早期婴儿癫痫性脑病（EIEE）是一种进行性神经系统疾病，伴有认知和运动障碍，且常与严重智力残疾相关。这种疾病属于年龄依赖性癫痫性脑病组，因此随着中枢神经系统的发育，其临床和脑电图特征会随年龄而变化。随着新的基因发现，与早期婴儿癫痫性脑病相关的分子基础和临床谱不断扩大。本综述将重点介绍早期婴儿癫痫性脑病的分子病因，以及随着大脑发育，这些癫痫表型中发生的临床和脑电图变化。
