An exploration of causative genes of focal cortical dysplasia with intractable epilepsy, using advanced technologies

儿童期顽固性癫痫还有其他问题并导致难以度过日常生活的能力。癫痫的主要病因是局灶性皮质发育不良（FCD），它表现为大脑皮层部分的特征性发育不良。在本研究中，我们利用细胞分选技术和比较基因组杂交（CGH）阵列分析来探索FCD形成的致病基因。我们使用了4名FCD患者的DNA样本，其父母在知情同意下同意研究使用。因此，我们没有获得4例常见异常基因，2例3例常见异常基因和13例2例常见异常基因。在这些基因中，我们可以找到六个候选基因。我们为此目标提出了进一步的分析。

Intractable epilepsy in childhood has other problems and leads to be difficult to spend daily ability. The major cause of the epilepsy is focal cortical dysplasia (FCD), which shows characteristic dysplasia in a part of cerebral cortex. In the present study, we explore causative genes of FCD formation, using cell sorting technique and CGH （Comparative genomic hybridization）array analysis. We used DNA samples of 4 FCD patients, whose parents agreed with the research usage under an informed consent. As a result, we obtained no 4-patient common abnormal gene, two 3-patient common abnormal genes and thirteen 2-patient common abnormal genes. Among them, we could pick up six genes for the candidates. We advance further analyses for the goal.