|
[1]
|
孔庆英, 石岩. 2例复杂热性惊厥儿童GABRG2基因突变分析[J]. 中西医结合心脑血管病杂志, 2012, 10(6): 702-704.
|
|
[2]
|
汤志鸿. 遗传性癱痫伴热性惊厥附加症家系基因型与临床表型相关性研究[D]: [硕士学位论文]. 广州: 南方医科大学, 2014.
|
|
[3]
|
Wallace, R.H., Berkovic, S.F., Howell, R.A., et al. (1996) Suggestion of a Major Gene for Familial Febrile Convulsions Mapping to 8q13-21. Medical Genetics, 33, 308-312. http://dx.doi.org/10.1136/jmg.33.4.308 [Google Scholar] [CrossRef] [PubMed]
|
|
[4]
|
Caro-Gomez, M.-A., Carrizosa, J., et al. (2013) Segregation of a Haplotype Encompassing FEB1 with Genetic Epilepsy with Febrile Seizures plus in a Colombian Family. Epileptic Disorders, 15, 128-131.
|
|
[5]
|
Singh, N.A., Pappas, C., Dahle, E.J., et al. (2009) A Role of SCN9A in Human Epilepsies, as a Cause of Febrile Seizures and as a Potential Modifier of Dravet Syndrome. PLoS Genetics, 9, e1000649.
http://dx.doi.org/10.1371/journal.pgen.1000649 [Google Scholar] [CrossRef] [PubMed]
|
|
[6]
|
胡具雄, 金庆民, 吕文娟. 中国人热性惊厥与MASS1基因的分子生物学研究[J]. 中国农村健康管理, 2012, 32(1): 102-104.
|
|
[7]
|
赵峰, 郑昆, 柯晓燕, 等. 癫痛伴热性惊厥附加症患儿基因单核普酸多态性相关性研究[J]. 武汉大学学报, 2013, 34(1): 64-66.
|
|
[8]
|
Dai, X.H., Chen, W.W., Wang, X., et al. (2008) A Novel Genetic Locus for Familial Febrile Seizures and Epilepsy on Chromosome 3q26.2-q26.33. Human Genetics, 124, 423-429. http://dx.doi.org/10.1007/s00439-008-0566-9 [Google Scholar] [CrossRef] [PubMed]
|
|
[9]
|
Salzmann, A., Guipponi, M., Lyons, P.J., et al. (2012) Carboxypeptidase A6 Gene (CPA6) Mutations in a Recessive Familial Form of Febrile Seizures and Temporal Lobe Epilepsy and in Sporadic Temporal Lobe Epilepsy. Human Mutation, 33, 124-135. http://dx.doi.org/10.1002/humu.21613 [Google Scholar] [CrossRef] [PubMed]
|
|
[10]
|
Belhedi, N., Perroud, N. and Karege, F. (2014) Increased CPA6 Promoter Methylation in Focal Epilepsy and in Febrile Seizures. Epilepsy Research, 108, 144-148. http://dx.doi.org/10.1016/j.eplepsyres.2013.10.007 [Google Scholar] [CrossRef] [PubMed]
|
|
[11]
|
汪皓, 陈秋梅, 熊礼宽. IL-1β及IL-1Ra 基因VNTR 多态性与儿童热性惊厥的相关性研究[J]. 中华全科医学, 2013, 11(8): 1209-1211.
|
|
[12]
|
Zare-Shahabadi, A., Soltani, S. and Ashrafi, M.R. (2015) Association of IL4 Single-Nucleotide Polymorphisms with Febrile Seizures. Journal of Child Neurology, 30, 423-428. http://dx.doi.org/10.1177/0883073814551389 [Google Scholar] [CrossRef] [PubMed]
|
|
[13]
|
熊志勇. IL-6、IL-10基因多态性与小儿热性惊厥相关性研究[J]. 中国医疗前沿, 2013, 8(18): 56-57.
|
|
[14]
|
Chou, I.C., Lin, W.D., Wang, C.H., et al. (2010) Interleukin (IL)-1β, IL-1 Receptor Antagonist, IL-6, IL-8,IL-10, and Tumor Necrosis Factor α Gene Polymorphisms in Patients with Febrile Seizures. Journal of Clinical Laboratory Analysis, 24, 154-159. http://dx.doi.org/10.1002/jcla.20374 [Google Scholar] [CrossRef] [PubMed]
|
|
[15]
|
Zare-Shahabadi, A., Ashrafi, M.R., Shahrokhi, A., et al. (2015) Single Nucleotide Polymorphisms of TNF-A Gene in Febrile Seizures. Journal of the Neurological Sciences, 356, 153-156. http://dx.doi.org/10.1016/j.jns.2015.06.039 [Google Scholar] [CrossRef] [PubMed]
|
|
[16]
|
Maroso, M., Balosso, S., Ravizza, T., et al. (2010) Toll-Like Receptor 4 and High-Mobility Group Box-1 Are Involved in Ictogenesis and Can Be Targeted to Reduce Seizures. Nature Medicine, 16, 413-419.
http://dx.doi.org/10.1038/nm.2127 [Google Scholar] [CrossRef] [PubMed]
|
|
[17]
|
Sun, H., Zhang, Y., Yang, J., et al. (2008) Gene Symbol: GABRG2. Disease: Generalized Epilepsy with Febrile Seizures Plus. Human Genetics, 124, 298-299.
|
|
[18]
|
Brunklaus, A., Ellis, R., Stewart, H., et al. (2015) Homozygous Mutations in the SCN1A Gene Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome in 2 Families. European Journal of Paediatric Neurology, 19, 484-488. http://dx.doi.org/10.1016/j.ejpn.2015.02.001 [Google Scholar] [CrossRef] [PubMed]
|
|
[19]
|
陈志红, 汤志鸿, 王春. 全面性癫癎伴热性惊厥附加症2家系SCN1A基因新突变分析[J]. 中华实用儿科临床杂志, 2015, 30(10): 765-768.
|
|
[20]
|
于美娟, 秦兵, 石奕武. 癫痫伴热性惊厥附加症患者SCN2A 基因突变的筛查[J]. 山东大学学报(医学版), 2010, 48(7): 199-202.
|
|
[21]
|
Saghazadeh, A., Mastrangelo, M. and Rezaei, N. (2014) Genetic Background of Febrile Seizures. Reviews in the Neurosciences, 25, 129-161. http://dx.doi.org/10.1515/revneuro-2013-0053 [Google Scholar] [CrossRef] [PubMed]
|
|
[22]
|
Johnston, A.J., Kang, J.Q., Shen, W., et al. (2014) A Novel GABRG2 Mutation, p.R136*, in a Family with GEFS+ and Extended Phenotypes. Neurobiology of Disease, 64, 131-141. http://dx.doi.org/10.1016/j.nbd.2013.12.013 [Google Scholar] [CrossRef] [PubMed]
|
|
[23]
|
谢晓华, 李丽芳, 黄希顺, 等. 单纯腭裂并全面性癫痫伴热性惊厥附加症家系的基因定位及GABRD基因测序研究[J]. 实用儿科临床杂志, 2010(20): 1576-1579.
|