TY -的T1 -应用多种预测算法的分子诊断癫痫(S26.004) JF -神经学乔-神经病学SP - S26.004 LP - S26.004六世- 78 - 1补充非盟-滨Gonsales盟宝拉Preto AU -首页玛丽亚黑山盟Marilisa Guerreiro AU - Iscia Lopes-Cendes Y1 - 2012/04/25 UR - //www.ez-admanager.com/content/78/1_Supplement/S26.004.abstract N2 -目的:本研究的目的是寻找突变患者SCN1A Dravet Doose综合症,并建立genotype-phenotype相关性使用预测算法作为一种工具来确定潜在的有害突变。背景Dravet和Doose综合征严重形式的癫痫的临床表现包括全身性癫痫伴发热性发作+ (gef +)。突变SCN1A已确定的病人在这个光谱。然而,这些突变的预后价值和可能与不同的临床表型的相关性尚不清楚。设计/方法:我们执行SCN1A突变筛选15 Dravet综合症患者和13 Doose综合症。八个预测算法被用来分析蛋白质功能的突变可能造成的影响。此外,MLPA技术用于检测在SCN1A拷贝数变化。结果:十二个突变被发现在80%的患者Dravet综合症:六个错义突变(50%)影响蛋白质功能预测,三个剪切位点突变,两个删除和插入。突变大多位于孔隙地区和蛋白c端。Doose综合症患者没有突变。此外,没有发现拷贝数变异。结论:我们发现SCN1A的高频突变Dravet综合症患者(80%),因此这表明分子识别这些患者测试是有用的。 In addition, our results indicate that missense mutations can cause severe phenotypes depending on its location and the type of amino-acid substitution. Furthermore, our strategy for predicting deleterious effect of mutations using multiple algorithms was able to provide valuable information, helping clinicians with decision making. Regarding Doose syndrome, SCN1A testing does not seem to be clinically relevant.Supported by: FAPESP and CNPq.Disclosure: Dr. Gonsales has nothing to disclose. Dr. Preto has nothing to disclose. Dr. Montenegro has nothing to disclose. Dr. Guerreiro has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose.Wednesday, April 25 2012, 14:00 pm-15:45 pm ER -