Developing an animal model for infantile spasms: pathogenesis, problems and progress
Developing an animal model for infantile spasms: pathogenesis, problems and progress
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DOI：
10.1242/dmm.001883
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发表时间：
2009-07-01
影响因子：
4.3
通讯作者：
Golden, Jeffrey A.
中科院分区：
文献类型：
--
作者：
Marsh, Eric D.;Golden, Jeffrey A.
婴儿痉挛（IS）是最常见的早期癫痫性脑病，每年折磨成千上万的儿童，并导致严重的残疾。IS也被称为韦斯特综合征，其特点是顽固性刻板发作，发育不良和特征性脑电图（EEG）模式。IS通常会发展为另一种癫痫性脑病，即lenox - gastaut综合征，并随着患者终生癫痫和不同程度的智力迟钝而继续发展。人们对is的生物学基础知之甚少。由于IS的病因是多种多样的，多种原因必须汇聚成一个最终的共同途径，导致这种特定的癫痫表型。找到一个或多个模型来测试这一最终途径是必要的，以理解为什么癫痫发作的最大易感性发生在婴儿期和幼儿期，以及是什么导致了与is相关的认知潜力下降。此外，适当的模型将允许更好地测试专门针对IS的潜在疗法。本文将介绍IS的临床特征和病因；IS模型应该包含的理想特征；以及目前存在的IS模型。最后，我们将讨论这些模型的局限性以及未来研究IS的潜在途径。
Infantile spasms (IS), the most common of the early epileptic encephalopathies, afflicts thousands of children each year and results in significant disability. Also known as West syndrome, IS is characterized by intractable stereotyped seizures, poor developmental outcome and a characteristic electroencephalogram (EEG) pattern. IS often progresses into another epileptic encephalopathy known as Lennox-Gastaut syndrome, and continues with the patient being burdened by lifelong epilepsy and varying degrees of mental retardation. Little is known about the biological basis of IS. As the etiologies of IS are diverse, the multiple causes must converge into a final common pathway that results in this specific epilepsy phenotype. Finding a model or models to test this final pathway is necessary bot to understand why the greatest susceptibility to seizure development occurs during infancy and early childhood, and what underlies the decreased cognitive potential associated with IS. Furthermore, appropriate models would permit better testing of potential therapies directed specifically at IS. This review will describe the clinical features and etiologies of IS; the ideal features that IS models should contain; and the IS models that exist currently. Finally, we will discuss the limitations of these models and the potential avenues for future research on IS.