Frameshift mutations of the ARX gene in familial Ohtahara syndrome
Frameshift mutations of the ARX gene in familial Ohtahara syndrome
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DOI：
10.1111/j.1528-1167.2010.02559.x
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发表时间：
2010-09
期刊：
影响因子：
5.6
通讯作者：
M. Kato;N. Koyama;M. Ohta;K. Miura;K. Hayasaka
中科院分区：
文献类型：
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作者：
M. Kato;N. Koyama;M. Ohta;K. Miura;K. Hayasaka
目的：Ohtahara综合征是最严重和最早的癫痫类型之一，常与脑畸形有关，如半巨脑。最近，ARX第一聚丙氨酸束的较长扩张被发现是无脑畸形的Ohtahara综合征的原因，而ARX的过早终止突变被发现可导致严重的脑畸形，如无脑或无脑积水。这两种疾病都被指定为ARX相关的神经元间病变。
Purpose: Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is frequently associated with brain malformations, such as hemimegalencephaly. Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly. Both are designated as ARX‐related interneuronopathies.