Kroll Jason R, Saras Arunesh, Tanouye Mark A
Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA.
Department of Environmental Science, Policy and Management, University of California, Berkeley, CA 94720, USA.
Exp Neurol. 2015 Dec;274(Pt A):80-7. doi: 10.1016/j.expneurol.2015.06.018. Epub 2015 Jun 18.
This paper reviews Drosophila voltage-gated Na(+) channel mutations encoded by the para (paralytic) gene and their contributions to seizure disorders in the fly. Numerous mutations cause seizure-sensitivity, for example, para(bss1), with phenotypes that resemble human intractable epilepsy in some aspects. Seizure phenotypes are also seen with human GEFS+ spectrum mutations that have been knocked into the Drosophila para gene, para(GEFS+) and para(DS) alleles. Other para mutations, para(ST76) and para(JS) act as seizure-suppressor mutations reverting seizure phenotypes in other mutants. Seizure-like phenotypes are observed from mutations and other conditions that cause a persistent Na(+) current through either changes in mRNA splicing or protein structure.
本文综述了由para（麻痹）基因编码的果蝇电压门控钠通道突变及其对果蝇癫痫发作障碍的影响。许多突变会导致癫痫易感性，例如para(bss1)，其表型在某些方面类似于人类难治性癫痫。在已敲入果蝇para基因的人类GEFS +谱系突变体para(GEFS+)和para(DS)等位基因中也观察到癫痫发作表型。其他para突变，如para(ST76)和para(JS)，可作为癫痫抑制突变，逆转其他突变体中的癫痫发作表型。通过mRNA剪接或蛋白质结构的变化导致持续钠电流的突变和其他条件也可观察到癫痫样表型。
