Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

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• 作者：Y. Jane Tavyev Asher^a ; ^{jane.tavyev@cshs.org} ; Fernando Scaglia^b
• 关键词：Epilepsy ; Infantile epileptic encephalopathy ; Infantile spasms
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 期刊代码：118_17697212
• 类别：med
• 出版时间：May, 2012
• 卷：55
• 期：5
• 页码：299-306
• 文件大小：186 K

摘要

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.