Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (5): 108-112.doi: 10.6040/j.issn.1671-7554.0.2022.1136
• 病例报道 • Previous Articles
CLC Number:
| [1] Jafri SK, Kumar R, Lashari SK, et al. Menkes disease: a rare disorder[J]. J Pak Med Assoc, 2017, 67(10): 1609-1611. [2] Rosenberg RN, Pascual JM. Rosenbergs molecular and genetic basis of neurological and psychiatric disease [J]. Academic Press, 2020, 1(2): 613-621. [3] Harrison MD, Dameron CT. Molecular mechanisms of copper metabolism and the role of the Menkes disease protein [J]. Biochem Mol Toxicol, 1999, 13(2): 93-106. [4] Ashrafi MR, Ghasemi D, Safavi M. Menkes disease[J]. Arch Iran Med, 2021, 24(12): 919-920. [5] Prasad AN, Levin S, Rupar CA, et al. Menkes disease and infantile epilepsy[J]. Brain Dev, 2011, 33(10): 866-876. [6] 张佩琪,李花,胡湘蜀,等.Menkes病的临床特点[J].癫痫杂志,2021,7(1):2-11. [7] Manara R, DAgata L, Rocco MC, et al. Neuroimaging changes in menkes disease, Part 1[J]. AJNR Am J Neuroradiol, 2017, 38(10): 1850-1857. [8] Manara R, Rocco MC, Dagata L, et al. Neuroimaging changes in menkes disease, Part 2[J]. AJNR Am J Neuroradiol, 2017, 38(10): 1858-1865. [9] 黄琼辉,王静敏,吴晔,等.Menkes病临床及ATP7A基因突变和拷贝数改变分析[J].实用儿科临床杂志,2012,27(8):570-573. [10] Verrotti A, Carelli A, Coppola G. Epilepsy in children with Menkes disease:a systematic review of literature[J]. Child Neurol, 2014, 29(12): 1757-1764. [11] Zlatic S, Comstra HS. Gokhale A, et al. Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease[J]. Neurobiol Dis, 2015, 81: 154-161. doi: 10.1016/j.nbd.2014.12.024. [12] 王爽,李典. Menks病临床及实验室特点与基因诊断[J].中华实用儿科临床杂志,2016, 31(10): 787-791. [13] Ahuja A, Dev K, Tanwar RS, et al. Copper mediated neurological disorder:visions into amyotmphie lateral sclerosis, Alzheimer and Menkes disease[J]. Trace Elem Med Biol, 2015, 29: 11-23. doi: 10.1016/j.jtemb.2014.05.003. [14] Verrotti A, Cusmai R, Darrae F, et al. Epilepsy in Menkes disease: an electroclinical long term study of 28 patients[J]. Epilepsy Res, 2014, 108(9): 1597-1603. [15] Bindu PS, Taly AB, Kothari S, et al. Electro-clinical features and magnetic resonance imaging correlates in Menkes disease[J]. Brain Dev, 2013, 35(5): 398-405. [16] 刘晓燕,吴逊.临床脑电图学[M].2版.北京:人民卫生出版社,2019:81-83. [17] 尚可为,张月华,杨小玲,等. 婴儿癫痫伴游走性局灶性发作的临床及基因突变特点[J]. 中华儿科杂志,2016, 54(10): 735-739. |
| [1] | CAO Ai-hua1, MA Liang2, YU Lin3, YANG Bing-shang1, ZHANG Xin-ting1, LEI Ge-fei1, WANG Ji-wen1. Effect of ABT-724 on ability of attentional set-shifting in spontaneously hypertensive rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2013, 51(12): 15-19. |
| [2] | YUAN Chao1, ZHAO Jing-jie2, LIU Jun-li2, SHANG Wei1. ATP1A2 gene mutation detection in an alternating hemiplegia of childhood family [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(11): 79-. |
| [3] | KONG Min, GAO Yuxing. Effect of antiepileptic drugs on cognitive functions and expressions of glutamate receptor 2 and synaptophysin of the hippocampus in rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2010, 48(7): 14-18. |
| [4] | LI JUN, LI Baomin, YANG LU. Clinical characteristics and genetic analysis of early onset epileptic encephalopathy induced by UBA5 gene mutation [J]. Journal of Shandong University (Health Sciences), 2022, 60(8): 58-62. |
| [5] | TIAN Min, CAO Lili, SONG Chengyuan. Neurofibromatosis type I: a case of novel mutation and review of literature [J]. Journal of Shandong University (Health Sciences), 2022, 60(4): 128-132. |
|
||