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Read more about MEF2C Haploinsufficiency here:

  1. Rocha, Helena et al. MEF2C Haploinsufficiency syndrome: Report of a new MEF2C mutation and review. European journal of medical genetics. 2016; 59,9: 478-82.

  2. Vrečar, Irena 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. Journal of pediatric genetics. 2017; 6,3: 129-141.

  3. Wan, Lin et al. Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations. Frontiers in pediatrics. 2021; 9 664449.

  4. Zweiwe M, 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: 722-733.

  5. Piciorkowski AR, et al. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013; 14: 99-111.

  6. Li H, et al. Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo. Proc. Nat. Acad. Sci. 2008; 105: 9397-9402.

  7. Barbosa AC, et al. MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function. Proc.Nat.Acac. Sci. 2008; 105: 9391-9396.

  8. Cooley Coleman JA et al. Clinical findings from the landmark MEF2C-related disorders Natural History Study. Mol Genet. Genomic Med. 2022; 10(6): e1919.

  9. Del Rosario, Chelo et al. How to use the Bayley Scales of Infant and Toddler Development. Archives of disease in childhood. Education and practice edition vol. 106,2 (2021): 108-112.

  10. Hassan, Ahmed et al. Regulation of microglial transcription factor MEF2C by Alzheimer’s disease-relevant stimuli. Alzheimer’s Dement. 2021;17(Suppl. 3):e057448.