RT期刊文章SR电子T1家族性颞叶癫痫和精神光环与小说有关LGI1突变摩根富林明神经病学神首页经学乔FD Lippincott Williams &威尔金斯SP 1173 OP 1176 10.1212 / WNL。0 b013e318212ab2e VO 76 A1是13 p Striano A1 g . Busolin A1 l .曾经当过A1 e . Leonardi A1。科波拉A1主席A1 l·l·里冈A1 r . Michelucci A1 S.C.E. Tosatto A1 s Striano A1 c .高贵的年2011 UL //www.ez-admanager.com/content/76/首页13/1173.abstract AB背景:常染色体显性侧颞叶癫痫(ADLTE)特点是局部癫痫发作与听觉特性或失语。LGI1基因的突变在多达50%的已报告ADLTE谱系。我们报告一个家庭与颞叶癫痫的特点是心理症状与小说LGI1突变有关。方法:所有参与者个人采访,接受神经系统检查和video-EEG录音。LGI1外显子测序的标准方法。突变cDNA转染293人类胚胎肾细胞;细胞溶解产物和媒体被免疫印迹分析。EPTP Lgi1蛋白质域的计算机建模进行了使用WD重复的结构蛋白和手工精制。结果:三个受影响的家庭成员被确定,2人有精神症状的颞叶癫痫(似曾相识,恐惧),但没有听觉或失语症的现象,而第三个复杂部分发作没有任何光环。 In all patients, we found a novel LGI1 mutation, Arg407Cys, which did not hamper protein secretion in vitro. Mapping of the mutation on a 3-dimensional protein model showed that this mutation does not induce large structural rearrangements but could destabilize interactions of Lgi1 with target proteins. Conclusions: The Arg407Cys is the first mutation with no effect on Lgi1 protein secretion. The uncommon, isolated psychic symptoms associated with it suggests that ADLTE encompasses a wider range of auras of temporal origin than hitherto reported.

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