[1] Borlot F, Whitney R, Cohn RD, et al. MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review. Seizure, 2019, 67: 86-90.
[2] Wang J, Zhang Q, Chen Y, et al. Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. BMC Med Genet, 2018, 19(1): 191.
[3] Vrecăr I, Innes J, Jones EA, et al. Further clinical delineation of the MEF2C haploinsufficiency syndrome: Report on new cases and literature review of severe neurodevelopmental disorders presenting with seizures, absent speech, and involuntary movements. J Pediatr Genet, 2017, 6(3): 129-141.
[4] Rocha H, Sampaio M, Rocha R, et al. MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. Eur J Med Genet, 2016, 59(9): 478-482.
[5] Tanteles GA, Alexandrou A, Evangelidou P, et al. Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature. Am J Med Genet A, 2015, 167A(3): 664-669.
[6] Paciorkowski AR, Traylor RN, Rosenfeld JA, et al. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics, 2013, 14(2): 99-111.
[7] Bienvenu T, Diebold B, Chelly J, et al. Refining the phenotype associated with MEF2C point mutations. Neurogenetics, 2013, 14(1): 71-75.
[8] Zweier M, Gregor A, Zweier C, et al. Mutations in MEF2C from the 5q14. 3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat, 2010, 31(6): 722-733.
[9] Le Meur N, Holder-Espinasse M, Jaillard S, et al. MEF2C haploinsufficiency caused by either microdeletion of the 5q14. 3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet, 2010, 47(1): 22-29.
[10] Anisimova IV, Dadali EL, Konovalov FA, et al.[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene]. Zh Nevrol Psikhiatr Im S S Korsakova, 2018, 118(4): 70-75.
[11] Novara F, Beri S, Giorda R, et al. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet, 2010, 78(5): 471-477.
[12] Li Z, McKercher SR, Cui J, et al. Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells. J Neurosci, 2008, 28(26): 6557-6568.
[13] Barbosa AC, Kim MS, Ertunc M, et al. MEF2C, a transcrip-tion factor that facilitates learning and memory by negative regulation of synapse numbers and function. Proc Natl Acad Sci U S A, 2008, 105(27): 9391-9396.
[14] Shalizi A, Gaudillière B, Yuan Z, et al. A calcium-regulated MEF2 sumoylation switch controls postsynaptic differentiation. Science, 2006, 311(5763): 1012-1017.
[15] Flavell SW, Cowan CW, Kim TK, et al. Activity-dependent regulation of MEF2 transcription factors suppresses excitatory synapse number. Science, 2006, 311(5763): 1008-1012.
[16] Harrington AJ, Raissi A, Rajkovich K, et al. MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders. Elife, 2016, 5: e20059.
[17] Tu S, Akhtar MW, Escorihuela RM, et al. NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism. Nat Commun, 2017, 8(1): 1488.
[18] Zweier M, Rauch A. The MEF2C-related and 5q14. 3q15 microdeletion syndrome. Mol Syndromol, 2012, 2(3-5): 164-170.
[19] Khalili Alashti S, Fallahi J, Mohammadi S, et al. Two novel mutations in the MECP2 gene in patients with Rett syndrome. Gene, 2020, 732: 144337.
[20] Kato T, Morisada N, Nagase H, et al. Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing. Brain Dev, 2015, 37(9): 911-915.
[21] Glaze DG, Percy AK, Skinner S, et al. Epilepsy and the natural history of Rett syndrome. Neurology, 2010, 74(11): 909-912.
[22] Gold WA, Krishnarajy R, Ellaway C, et al. Rett syndrome: A genetic update and clinical review focusing on comorbidities. ACS Chem Neurosci, 2018, 9(2): 167-176.
[23] 罗瑜平, 周波, 刘芬, 等. 增强自噬激活p38/MEF2C通路调节突触相关蛋白的表达改善孤独症大鼠的症状. 细胞与分子免疫学杂志, 2019, 35(3): 236-242. |
