机构：[a]Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing 100053, China神经内科首都医科大学宣武医院[b]National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China[c]Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Beijing 100005, China[d]Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College, 1 Shuaifuyuan, Beijing 100730, China
Genetic epilepsy with febrile seizures plus (GEFS+) is a familial autosomal dominant condition characterized by genetic heterogeneity. Five genes for GEFS+ identified in large families account for only a small proportion of families. Mutation in the majority of families with GEFS+ has not identified yet. The aim of our study is to search for the gene responsible for GEFS+ in three Chinese families by linkage analyses and a sequencing approach and to investigate the importance of coding and noncoding regions variations of four known GEFS+ genes (SCN1A, SCN1B, GABRG2 and SCN2A) in Chinese families. Results showed that a 6-cM candidate interval at 5q33-34 with a maximum LOD scores of 2.043 was identified in families B. Sequencing candidate gene GABRG2 and GABRA1 in this region did not identify a causative mutation. Moreover, no mutation was found in coding and noncoding regions of the four genes in three Chinese families. Besides excluding coding regions of four known GEFS+ genes, we also excluded the possibility of a mutation in the promoter, exon-intron boundaries, 5' untranslated regions (5' UTRs), and 3' UTRs of four known GEFS+ genes in three Chinese families. In conclusion, the present study demonstrates the heterogeneity of the etiologies of GEFS+. There are as yet undiscovered mechanisms underlying GEFS+. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
基金：
China Postdoctoral Science Foundation (No. 20060390122).
第一作者机构：[a]Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing 100053, China
通讯作者：
通讯机构：[a]Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing 100053, China[d]Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College, 1 Shuaifuyuan, Beijing 100730, China
推荐引用方式(GB/T 7714)：
Hua Lin,Jingyun Li,Mengyang Wang,et al.Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus[J].NEUROSCIENCE LETTERS.2011,500(2):123-128.doi:10.1016/j.neulet.2011.06.018.
APA：
Hua Lin,Jingyun Li,Mengyang Wang,Zheng Wang,Yuping Wang&Liwen Wu.(2011).Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus.NEUROSCIENCE LETTERS,500,(2)
MLA：
Hua Lin,et al."Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus".NEUROSCIENCE LETTERS 500..2(2011):123-128
