TY -的T1 -一个新的研究基因在皮质畸形发展揭示了一个复杂的分子的发现和表型之间的关系(S08.003) JF -神经学乔-神经病学SP - S08.003 LP - S08.003六世- 80 - 7补充AU - Daniela Souza AU -法比奥·托雷斯盟爱德华多山本AU -玛丽亚黑山AU -维拉Terra盟Marilisa Gu首页erreiro AU -费尔南多Cendes盟Iscia Lopes-Cendes Y1 - 2013/02/12 UR - //www.ez-admanager.com/content/80/7_Supplement/S08.003.abstract N2 -目的:描述遗传分子的发现一大群畸形患者皮质的发展(MCD),为临床和MRI相关搜索。背景:背景包括范围广泛的发育障碍神经发育延迟和癫痫的重要原因。传统上,mcd相关基因控制重要的发展步骤:如克莱斯勒,LIS1 FLNA。然而,最近一个复杂的画面出现了包括候选人,如微管蛋白基因家族(TUBA1A, TUBB2B和TUBA8)。有趣的是,这些基因的突变是各种类型的文章,没有特定的临床/核磁共振相关。设计/方法:我们组由110例不同类型的文章。他们调查了高分辨率体积MRI在癫痫中心执行。突变筛选是由Sanger测序整个编码区以及exon-intron界限以下基因FLNA LIS1,克莱斯勒,TUBA1A, TUBB2B, TUBA8 EMX2。此外,我们正在进行snp阵列研究(CytoScanHD)搜索这些患者的不平衡结构异常。我们使用计算机算法来预测蛋白质的影响确定任何变体。结果:到目前为止,总共45变体被确定。潜在的致病变种被发现在FLNA (n = 2/45), LIS1 (n = 2/45),克莱斯勒(n = 2/45), TUBB2B (n = 1/45)和TUBA8 (n = 2/45)。可能中立变异也确认(n = 36/45)。CONCLUSIONS: Most of the variants identified are neutral polymorphisms which are present in public databases. Only few patients of our cohort present potentially deleterious mutations in the genes analyzed (n=9/110). Interestingly, all potentially deleterious variants identified in tubulins genes (n=3) were in patients with schizencephaly. Considering the small proportion of potentially deleterious variants identified in this cohort it becomes clear that other strategies should be used in other to expedite the identification of potential deleterious variants in MCDs.Disclosure: Dr. Souza has nothing to disclose. Dr. Torres has nothing to disclose. Dr. Yamamoto has nothing to disclose. Dr. Montenegro has nothing to disclose. Dr. Terra has nothing to disclose. Dr. Guerreiro has nothing to disclose. Dr. Cendes has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose.Tuesday, March 19 2013, 1:00 pm-2:45 pm ER -