Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

被引：36

作者：

Asher, Y. Jane Tavyev ^{[1
]}

Scaglia, Fernando ^{[2
]}

机构：

[1] Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Clin Care Ctr, Houston, TX 77030 USA

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 05期

关键词：

Epilepsy; Infantile epileptic encephalopathy; Infantile spasms; SYNAPTIC VESICLE FUSION; EARLY MYOCLONIC ENCEPHALOPATHY; LINKED MENTAL-RETARDATION; SUPPRESSION-BURST PATTERN; LENNOX-GASTAUT SYNDROME; ALPHA-II-SPECTRIN; DE-NOVO MUTATIONS; STXBP1; MUTATIONS; OHTAHARA-SYNDROME; WEST-SYNDROME;

D O I：

10.1016/j.ejmg.2012.04.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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. (c) 2012 Elsevier Masson SAS. All rights reserved.

引用

页码：299 / 306

页数：8

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