MEF2C 基因突变导致的常染色体显性智力低下 20 型一例_Journal of Epilepsy

Authors：

 孙明霞 , 华颖 , 陈李兰 , 王健彪 , 胡笑月 , 王胜泉

无锡市儿童医院神经内科（无锡 214023）;

Corresponding author：

孙明霞, Email: sdjnsmxscj@163.com

Keywords：

DOI：

10.7507/2096-0247.20210093

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Citation： 孙明霞, 华颖, 陈李兰, 王健彪, 胡笑月, 王胜泉. MEF2C 基因突变导致的常染色体显性智力低下 20 型一例. Journal of Epilepsy, 2021, 7(6): 560-562. doi: 10.7507/2096-0247.20210093 Copy

1.	Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genet, 2013, 45: 825-830.
2.	Francesca Novara, Ambra Rizzo, Gloria Bedini, et al. MEF2C deletions and mutations versus duplications: a clinical comparison. Eur J Hum Genet, 2013, 56(5): 260-265.
3.	Keiko Shimojima, Akihisa Okumura, Harushi Mori, et al. De novo mierodeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus allosum. Am J Genet A, 2012, 158A(9): 2272-2276.
4.	Irena Vrečar, Josie Innes, Elizabeth A Jones, 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: 129-141.
5.	Novara F, Beri S, Giorda R, et al. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet, 2010, 78(5): 471-477.
6.	Nowakowska BA, Obersztyn E, Szymańska K, et al. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Am J Med Genet B Neuropsychiatr Genet, 2010, 153B(5): 1042-1051.
7.	Le Meur N, Holder-Espinasse M, Jaillard S, et al. MEF2C haploin-sufficiency 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.
8.	俞冬熠, 李朔, 姜楠. 5q14.3微缺失综合征导致婴儿痉挛症一家系的临床及遗传学研究. 中华儿科杂志, 2015, 53(2): 140-142.
9.	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.
10.	Zweier M, Rauch A. The MEF2C-related and 5q14.3q15 micro-deletion syndrome. Mol Syndromol, 2012, 2(3-5): 164-170.
11.	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.
12.	Paciorkowski AR, Traylor RN, Rosenfeld JA, et al. MEF2C haploin-sufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics, 2013, 14(2): 99-111.

1. Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genet, 2013, 45: 825-830.
2. Francesca Novara, Ambra Rizzo, Gloria Bedini, et al. MEF2C deletions and mutations versus duplications: a clinical comparison. Eur J Hum Genet, 2013, 56(5): 260-265.
3. Keiko Shimojima, Akihisa Okumura, Harushi Mori, et al. De novo mierodeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus allosum. Am J Genet A, 2012, 158A(9): 2272-2276.
4. Irena Vrečar, Josie Innes, Elizabeth A Jones, 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: 129-141.
5. Novara F, Beri S, Giorda R, et al. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet, 2010, 78(5): 471-477.
6. Nowakowska BA, Obersztyn E, Szymańska K, et al. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Am J Med Genet B Neuropsychiatr Genet, 2010, 153B(5): 1042-1051.
7. Le Meur N, Holder-Espinasse M, Jaillard S, et al. MEF2C haploin-sufficiency 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.
8. 俞冬熠, 李朔, 姜楠. 5q14.3微缺失综合征导致婴儿痉挛症一家系的临床及遗传学研究. 中华儿科杂志, 2015, 53(2): 140-142.
9. 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.
10. Zweier M, Rauch A. The MEF2C-related and 5q14.3q15 micro-deletion syndrome. Mol Syndromol, 2012, 2(3-5): 164-170.
11. 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.
12. Paciorkowski AR, Traylor RN, Rosenfeld JA, et al. MEF2C haploin-sufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics, 2013, 14(2): 99-111.

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