Rasmussen encephalitis associated with SCN1A mutation
Rasmussen encephalitis associated with SCN1A mutation
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DOI：
10.1111/j.1528-1167.2007.01411.x
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发表时间：
2008-03-01
期刊：
影响因子：
5.6
通讯作者：
Maegaki, Yoshihiro
中科院分区：
文献类型：
--
作者：
Ohmori, Iori;Ouchida, Mamoru;Maegaki, Yoshihiro
编码神经元电压门控钠通道α1亚单位的SCN1A基因突变会导致SMEI、GEFS+和相关的癫痫综合征。我们在此报告在1例拉斯穆森脑炎患者中发现的R1575C-SCN1A突变。R1575C在重组人SCN1A中构建，并在HEK293细胞中与人β1和β2钠通道辅助亚基一起异源表达。全细胞膜片钳记录用于确定生物物理特性。与野生型相比，R1575C通道表现出更高的通道可用性和更高的持续钠电流。这些电生理特性的缺陷可导致神经元兴奋性亢进。癫痫易感基因可能影响本例Rasmussen脑炎的发病机制。
Mutations in the SCN1A gene, encoding the neuronal voltage-gated sodium channel alpha 1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN1A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN1A and then heterologously expressed in HEK293 cells along with the human beta 1 and beta 2 sodium channel accessory subunits. Whole-cell patch-clamp recording was used to define biophysical properties. The R1575C channels exhibited increased channel availability and an increased persistent sodium current in comparison to the wild-type. These defects of electrophysiological properties can result in neuronal hyperexitability. The seizure susceptibility allele may influence the pathogenesis of Rasmussen encephalitis in this case.