Literature DB >> 22449245

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

L Lambert, T Bienvenu, L Allou, M Valduga, B Echenne, B Diebold, C Mignot, D Héron, V Roth, A Saunier, A Moustaïne, P Jonveaux, C Philippe.   

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Year:  2012        PMID： 22449245     DOI： 10.1111/j.1399-0004.2012.01861.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

1.  Identification of the Regulatory Elements and Target Genes of Megakaryopoietic Transcription Factor MEF2C.

Authors:  Xianguo Kong; Lin Ma; Edward Chen; Chad A Shaw; Leonard C Edelstein
Journal:  Thromb Haemost       Date:  2019-02-07       Impact factor: 5.249

2.  Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.

Authors:  Elisa Frullanti; Sonia Amabile; Maria Grazia Lolli; Anna Bartolini; Gabriella Livide; Elisa Landucci; Francesca Mari; Flora M Vaccarino; Francesca Ariani; Luca Massimino; Alessandra Renieri; Ilaria Meloni
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

Review 3.  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.

Authors:  Irena Vrečar; Josie Innes; Elizabeth A Jones; Helen Kingston; William Reardon; Bronwyn Kerr; Jill Clayton-Smith; Sofia Douzgou
Journal:  J Pediatr Genet       Date:  2017-04-12

Review 4.  Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Authors:  Carlotta Spagnoli; Carlo Fusco; Francesco Pisani
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

5.  Refining the phenotype associated with MEF2C point mutations.

Authors:  Thierry Bienvenu; Bertrand Diebold; Jamel Chelly; Bertrand Isidor
Journal:  Neurogenetics       Date:  2012-09-23       Impact factor: 2.660

6.  Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Authors:  Samin A Sajan; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Daniel G Glaze; Walter E Kaufmann; Steven A Skinner; Fran Annese; Michael J Friez; Jane Lane; Alan K Percy; Jeffrey L Neul
Journal:  Genet Med       Date:  2016-05-12       Impact factor: 8.822

Review 7.  Advancing epilepsy genetics in the genomic era.

Authors:  Candace T Myers; Heather C Mefford
Journal:  Genome Med       Date:  2015-08-25       Impact factor: 11.117

8.  Rett syndrome: a wide clinical and autonomic picture.

Authors:  G Pini; S Bigoni; L Congiu; A M Romanelli; M F Scusa; P Di Marco; A Benincasa; P Morescalchi; A Ferlini; F Bianchi; D Tropea; M Zappella
Journal:  Orphanet J Rare Dis       Date:  2016-09-29       Impact factor: 4.123

Review 9.  Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.

Authors:  Deborah Chiabrando; Francesca Bertino; Emanuela Tolosano
Journal:  Int J Mol Sci       Date:  2020-05-26       Impact factor: 5.923

10.  Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.

Authors:  Jiaping Wang; Qingping Zhang; Yan Chen; Shujie Yu; Xiru Wu; Xinhua Bao; Yongxin Wen
Journal:  BMC Med Genet       Date:  2018-10-30       Impact factor: 2.103
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