RT期刊文章SR电子T1 Nongenetic因素影响情景1型共济失调的严重程度在同卵双胞胎摩根富林明神经学神经学乔FD Lippincott Williams &威尔金斯SP 367 372 10.1212 / WNL OP。首页0 b013e3181ea9ee3 VO 75是4 A1杰坟墓A1 s Rajakulendran A1克里Zuberi A1 H.R.莫里斯A1 s Schorge A1 M.G.汉娜A1 D.M. Kullmann年2010 UL //www.ez-admanager.com/content/75/4/367.首页abstract AB目的:情景性共济失调1型(EA1)是一种单基因channelopathy KCNA1钾通道基因的突变引起的。影响个人携带相同的突变可以在共济失调的严重程度表现出相当大的可变性,neuromyotonia,以及其他相关的功能。我们调查了2套的表型的异质性EA1同卵双胞胎来确定环境因素对疾病严重程度的贡献。的一个突变被发现在一个远亲的家庭,提供的证据EA1表型遗传背景的影响。方法:我们评价3家庭EA1表型,2包括同卵双胞胎。我们KCNA1基因测序,研究了生物物理后果HEK突变的细胞。结果:我们发现了一个新的KCNA1突变每一对双胞胎。同时对临床症状的严重程度之间的显著差别。F414S突变中确定一组双胞胎也发生在一个远亲家庭癫痫复杂EA1表型。 The other twins had an R307C mutation, the first EA1 mutation to affect an arginine residue in the voltage-sensor domain. Both mutants when expressed exerted a dominant-negative effect on wild-type channels. Conclusion: These results broaden the range of KCNA1 mutations and reveal an unexpectedly large contribution of nongenetic factors to phenotypic variability in EA1. The occurrence of epilepsy in 1 of 2 families with the F414S mutation suggests an interplay of KCNA1 with other genetic factors.