TY - T1的家族性颞叶癫痫和精神光环与小说< em > LGI1 < / em >突变JF -神经学乔-神经病学SP - 1173 LP - 1176 - 10.1212 / WNL。首页0 b013e318212ab2e六世- 76 - 13非盟- p . Striano AU - g . Busolin AU - l .曾经当过非盟- e . Leonardi AU - a·科波拉盟- l . Vitiello AU - l .里冈AU - r . Michelucci盟S.C.E. Tosatto盟c - s Striano盟高贵的Y1 - 2011/03/29 UR - //www.ez-admanager.com/content/76/13/1173.abstr首页act N2 -背景:常染色体显性侧颞叶癫痫(ADLTE)的特征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. ER -