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首页> 外文期刊>Journal of Bioinformatics and Computational Biology >IS LGI2 THE CANDIDATE GENE FOR PARTIAL EPILEPSY WITH PERICENTRAL SPIKES?
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IS LGI2 THE CANDIDATE GENE FOR PARTIAL EPILEPSY WITH PERICENTRAL SPIKES?

机译：LGI2是否是患有周围性发作的部分癫痫的候选基因？

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Partial epilepsy with pericentral spikes (PEPS) is a familial epilepsy with disease locusnmapped to human chromosome region 4p15; yet, the causative gene is unknown. In thisnwork, arguments based on protein sequence analysis and patient-specific chromosomalndeletions are provided for LGI2 as the prime candidate gene for PEPS among the 52 genesnknown at the genome locus 4p15. Furthermore, we suggest that two reports of patientsnthat were not classified as PEPS but show very similar phenotypes and deletions in thenPEPS disease locus, could in fact describe the same disease. To test this hypothesis,npatients with diagnosed PEPS or the described similar phenotypes could be screened fornmutations in LGI2 and other shortlisted candidate genes. The linkage between PEPSnand its disease causing gene(s) would allow diagnosis of the disease based on geneticnscreening as well as hereditary studies. Furthermore, previous knowledge on molecularndisease mechanisms of related LGI proteins, for example LGI1 and autosomal dominantnlateral temporal epilepsy, could be applied to deepen the understanding of the PEPSn‡‡Corresponding author.n117n118 V. Limviphuvadh et al.ndisease mechanism at the molecular level, which may facilitate therapeutic interventionnin the future. Supplementary Table is available at http://www.worldscinet.com/jbcb/.
机译：具有中央周围尖峰的部分性癫痫（PEPS）是一种家族性癫痫，其疾病定位于人类染色体4p15区域；然而，致病基因尚不清楚。在这项工作中，基于蛋白质序列分析和患者特异性染色体缺失的论点为基因组基因座4p15已知的52个基因中的LEPS2作为PEPS的主要候选基因提供了依据。此外，我们建议，没有被分类为PEPS而是在那时PEPS疾病位点表现出非常相似的表型和缺失的两个患者报告实际上可以描述相同的疾病。为了验证这一假设，可以对诊断为PEPS或所述相似表型的患者筛查LGI2和其他入围候选基因的突变。 PEPSn及其致病基因之间的联系将允许根据遗传筛查和遗传研究对疾病进行诊断。此外，有关相关LGI蛋白（例如LGI1和常染色体显性颞侧癫痫病）的分子疾病机制的先前知识可用于加深对PEPSn‡‡通讯作者的理解。n117n118 V. Limviphuvadh等人在分子水平上的疾病的机制，这可能有助于将来的治疗干预。补充表可在http://www.worldscinet.com/jbcb/获得。

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