作者@article {SouzaS08.003 ={丹妮拉·苏扎和F{\ '}生物山本托雷斯和爱德华多和玛丽亚黑山和维拉Terra和Marilisa Guerreiro和费尔南多Cendes Iscia Lopes-Cendes}, title ={皮质的新研究基因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)},体积={80}={7}补充数量,页面= {S08.003——S08.003} ={2013},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:描述遗传分子的发现一大群畸形患者的脑皮质发育(MCD)和寻找临床和MRI关联。首页背景: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}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/80/7_Supplement/S08.003}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }