MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

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MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

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Expression of mef2 genes in the mouse central nervous system suggests a role in neuronal maturation

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Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

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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

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MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex.

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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

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Dlx1&2 and Mash1 Transcription Factors Control MGE and CGE Patterning and Differentiation through Parallel and Overlapping Pathways

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Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

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Fragile X Mental Retardation Protein Is Required for Synapse Elimination by the Activity-Dependent Transcription Factor MEF2

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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

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Identification of Arx transcriptional targets in the developing basal forebrain

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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

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Gene Expression in Cortical Interneuron Precursors is Prescient of their Mature Function

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The organization of the transcriptional network in specific neuronal classes

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Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

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Refining the phenotype associated with MEF2C haploinsufficiency

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

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Rett syndrome

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Myocyte Enhancer Factor 2C as a Neurogenic and Antiapoptotic Transcription Factor in Murine Embryonic Stem Cells

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The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome

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Refining the phenotype associated with MEF2C point mutations

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Movement Disorder-Childhood Rating Scale: Reliability and Validity

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FACS‐array gene expression analysis during early development of mouse telencephalic interneurons

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Functional regulatory regions of human transcription factor MEF2C

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5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

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Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less

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De novo 5q14.3 translocation 121.5‐kb upstream of MEF2C in a patient with severe intellectual disability and early‐onset epileptic encephalopathy

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Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C

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Functional Gene Expression Analysis of Tissue-Specific Isoforms of Mef2c

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An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)

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Identification of 15 genetic loci associated with risk of major depression in individuals of European descent

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

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Immune mediators in the brain and peripheral tissues in autism spectrum disorder

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Mechanisms governing activity-dependent synaptic pruning in the developing mammalian CNS

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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

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Synaptopathology Involved in Autism Spectrum Disorder

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Advancing epilepsy genetics in the genomic era

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MEF2 transcription factors: developmental regulators and emerging cancer genes

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MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders

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If not Angelman, what is it? a review of Angelman‐like syndromes

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MeCP2: the long trip from a chromatin protein to neurological disorders

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NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism

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Copy number variations in cryptogenic cerebral palsy

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Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy

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Emerging roles for MEF2 in brain development and mental disorders

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Epilepsy and outcome in FOXG1‐related disorders

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Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

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Does higher education protect against obesity? Evidence using Mendelian randomization

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Different MicroRNA Profiles in Chronic Epilepsy Versus Acute Seizure Mouse Models

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The expanding spectrum of movement disorders in genetic epilepsies

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MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice

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De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

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The multiple roles of salt-inducible kinases in regulating physiology

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MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

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Progress on the Roles of MEF2C in Neuropsychiatric Diseases

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Molecular profiling of the hippocampus of children with autism spectrum disorder

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Autism spectrum disorder and epileptic encephalopathy: common causes, many questions

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Postnatal Loss of Mef2c Results in Dissociation of Effects on Synapse Number and Learning and Memory

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An essential role for MEF2C in the cortical response to loss of sleep in mice

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ADGRV1 is implicated in myoclonic epilepsy

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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

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The Role of MEF2 Transcription Factor Family in Neuronal Survival and Degeneration

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Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies

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MEF2D haploinsufficiency downregulates the NRF2 pathway and renders photoreceptors susceptible to light-induced oxidative stress

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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

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Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology

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Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons

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Closing the translational gap between mutant mouse models and the clinical reality of psychotic illness

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Modeling epileptic spasms during infancy: Are we heading for the treatment yet?

Velı́šek, L., & Velı́šková, J. (2020) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2020.107578 · Cited by 31 · see citing works

Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development

Chen, L., Zhou, A. S., & West, A. E. (2017) · Journal of Neurophysiology · doi:10.1152/jn.00067.2017 · Cited by 30 · see citing works

Alteration of transcriptional networks in the entorhinal cortex after maternal immune activation and adolescent cannabinoid exposure

Hollins, S. L., Zavitsanou, K., Walker, F. R., & Cairns, M. J. (2016) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2016.02.021 · Cited by 28 · see citing works

Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity

Liu, X., Li, Z., Fan, C., Zhang, D., & Chen, J. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104487 · Cited by 27 · see citing works

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

Wang, J., Zhang, Q., Chen, Y., Yu, S., Wu, X., Bao, X., & Wen, Y. (2018) · BMC Medical Genetics · doi:10.1186/s12881-018-0699-1 · Cited by 27 · see citing works

MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review

Borlot, F., Whitney, R., Cohn, R. D., & Weiss, S. K. (2019) · Seizure · doi:10.1016/j.seizure.2019.03.015 · Cited by 27 · see citing works

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

Dugger, S. A., Dhindsa, R. S., Sampaio, G. L. D. A., Ressler, A. K., Rafikian, E. E., Petri, S., Letts, V. A., Teoh, J. J., Ye, J., Colombo, S., et al. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010952 · Cited by 29 · see citing works

Overlap Between Epilepsy and Neurodevelopmental Disorders: Insights from Clinical and Genetic Studies

Shimizu, H., Morimoto, Y., Yamamoto, N., Tayama, T., Ozawa, H., & Imamura, A. (2022) · Epilepsy · doi:10.36255/exon-publications-epilepsy-neurodevelopmental-disorders · Cited by 25 · see citing works

The major depressive disorder GWAS-supported variant rs10514299 in TMEM161B-MEF2C predicts putamen activation during reward processing in alcohol dependence

Muench, C., Schwandt, M. L., Jung, J., Cortes, C. R., Momenan, R., & Lohoff, F. W. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0184-9 · Cited by 25 · see citing works

MEF-2 isoforms' (A-D) roles in development and tumorigenesis

Madugula, K., Mulherkar, R., Khan, Z. K., Chigbu, D. I., Patel, D., Harhaj, E. W., & Jain, P. (2019) · Oncotarget · doi:10.18632/oncotarget.26763 · Cited by 24 · see citing works

The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythm

Koopman, C. D., Angelis, J. E. D., Iyer, S. P., Verkerk, A. O., da Silva, J. A., Berecki, G., Jeanes, A., Baillie, G. J., Paterson, S., Uribe, V., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2018220118 · Cited by 23 · see citing works

Accounting for cis-regulatory constraint prioritizes genes likely to affect species-specific traits

Starr, A. L., Gokhman, D., & Fraser, H. B. (2023) · Genome biology · doi:10.1186/s13059-023-02846-8 · Cited by 20 · see citing works

TheMef2cGene Dose-Dependently Controls Hippocampal Neurogenesis and the Expression of Autism-Like Behaviors

Basu, S., Ro, E. J., Liu, Z., Kim, H., Bennett, A., Kang, S., & Suh, H. (2023) · Journal of Neuroscience · doi:10.1523/jneurosci.1058-23.2023 · Cited by 23 · see citing works

Involvement of myocyte enhancer factor 2c in the pathogenesis of autism spectrum disorder

Chaudhary, R., Agarwal, V., Kaushik, A. S., & Rehman, M. (2021) · Heliyon · doi:10.1016/j.heliyon.2021.e06854 · Cited by 20 · see citing works

Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids

Trudler, D., Ghatak, S., Bula, M., Parker, J., Talantova, M. V., Luevanos, M., Labra, S. R., Grabauskas, T., Noveral, S. M., Teranaka, M., et al. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02761-9 · Cited by 23 · see citing works

Genetic investigations of the epileptic encephalopathies

Myers, C. T., & Mefford, H. C. (2016) · Progress in brain research · doi:10.1016/bs.pbr.2016.04.006 · Cited by 20 · see citing works

Comprehensive investigation of the phenotype of MEF2C ‐related disorders in human patients: A systematic review

Coleman, J. A. C., Sarasua, S. M., Boccuto, L., Moore, H. W., Skinner, S. A., & DeLuca, J. M. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62412 · Cited by 19 · see citing works

Epilepsy genetics: The ongoing revolution

Lesca, G., & Depienne, C. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.01.569 · Cited by 18 · see citing works

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders

Bach, S., Ryan, N., Guasoni, P., Corvin, A. P., El-Nemr, R. A., Khan, D., Sanfeliu, A., & Tropea, D. (2020) · Scientific Reports · doi:10.1038/s41598-020-79268-0 · Cited by 19 · see citing works

Local and long-range input balance: A framework for investigating frontal cognitive circuit maturation in health and disease

Allen, S. J., & Morishita, H. (2024) · Science Advances · doi:10.1126/sciadv.adh3920 · Cited by 13 · see citing works

Function analysis of Mef2c promoter in muscle differentiation

Jin, W., Liu, M., Peng, J., & Jiang, S. (2016) · Biotechnology and Applied Biochemistry · doi:10.1002/bab.1524 · Cited by 14 · see citing works

Clinical findings from the landmark MEF2C ‐related disorders natural history study

Coleman, J. A. C., Sarasua, S. M., Moore, H. W., Boccuto, L., Cowan, C. W., Skinner, S. A., & DeLuca, J. M. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1919 · Cited by 13 · see citing works

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature

Tanteles, G. A., Alexandrou, A., Evangelidou, P., Gavatha, M., Anastasiadou, V., & Sismani, C. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36945 · Cited by 13 · see citing works

SIK3 suppresses neuronal hyperexcitability by regulating the glial capacity to buffer K+ and water

Li, H., Russo, A., & DiAntonio, A. (2019) · The Journal of Cell Biology · doi:10.1083/jcb.201907138 · Cited by 13 · see citing works

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Raviglione, F., Douzgou, S., Scala, M., Mingarelli, A., D’Arrigo, S., Freri, E., Darra, F., Giglio, S., Bonaglia, M. C., Pantaleoni, C., et al. (2021) · Seizure · doi:10.1016/j.seizure.2021.03.025 · Cited by 12 · see citing works

Regional gene expression patterns are associated with task‐specific brain activation during reward and emotion processing measured with functional MRI

Komorowski, A., Vidal, R. O., Singh, A., Murgaš, M., Pena‐Centeno, T., Gryglewski, G., Kasper, S., Wiltfang, J., Lanzenberger, R. R., & Goya‐Maldonado, R. (2022) · Human Brain Mapping · doi:10.1002/hbm.26001 · Cited by 12 · see citing works

Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations

Wan, L., Liu, X., Hu, L., Chen, H., Sun, Y., Li, Z., Wang, Z., Lin, Z., Zou, L., & Yang, G. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.664449 · Cited by 10 · see citing works

MEF2C Hypofunction in GABAergic Cells Alters Sociability and Prefrontal Cortex Inhibitory Synaptic Transmission in a Sex-Dependent Manner

Cho, J. Y., Rumschlag, J. A., Tsvetkov, E., Proper, D. S., Lang, H., Berto, S., Assali, A., & Cowan, C. W. (2024) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2024.100289 · Cited by 9 · see citing works

Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice

Yousefian-Jazi, A., Kim, S., Chu, J., Choi, S.-H., Nguyen, P. T.-T., Park, U., Kim, M.-G., Hwang, H., Lee, K., Kim, Y., et al. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-024-00792-y · Cited by 9 · see citing works

The function of Mef2c toward the development of excitatory and inhibitory cortical neurons

Ward, C., Sjulson, L., & Batista‐Brito, R. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1465821 · Cited by 8 · see citing works

Evolution is in the details: Regulatory differences in modern human and Neanderthal

Barker, H. R., Parkkila, S., & Tolvanen, M. E. E. (2025) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2025.05.052 · Cited by 9 · see citing works

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

Cohen, R., Halevy, A., Aharoni, S., Kraus, D., Konen, O., Basel‐Vanagaite, L., Goldberg‐Stern, H., & Straussberg, R. (2016) · Neurogenetics · doi:10.1007/s10048-016-0491-3 · Cited by 8 · see citing works

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

Gordon, C. T., Tessier, A., Demir, Z., Goldenberg, A., Oufadem, M., Voisin, N., Pingault, V., Bienvenu, T., Lyonnet, S., de Pontual, L., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13046 · Cited by 8 · see citing works

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiencyPreprint

Dugger, S. A., Dhindsa, R. S., Sampaio, G. L. D. A., Ressler, A. K., Rafikian, E. E., Petri, S., Letts, V. A., Teoh, J. J., Ye, J., Colombo, S., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.01.072512 · Cited by 8 · see citing works

Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C

Tamura, T., Yamamoto, K. S., Imaizumi, T., Yamamoto, H., Miyamoto, Y., Yagasaki, H., Morioka, I., Kanno, H., & Yamamoto, T. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63182 · Cited by 7 · see citing works

Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus

Al-Shehhi, M., Betts, D. R., Ardle, L. M., Donoghue, V. B., & Reardon, W. (2015) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000102 · Cited by 6 · see citing works

Transcriptional Regulation of Cortical Interneuron Development

Pai, E. L.-L., Vogt, D. L., Hu, J. S., & Rubenstein, J. L. R. (2024) · Oxford University Press eBooks · doi:10.1093/med/9780197549469.003.0047 · Cited by 5 · see citing works

Neuronal brain region-specific DNA methylation and chromatin accessibility are associated with neuropsychiatric disease heritabilityPreprint

Rizzardi, L. F., Hickey, P. F., DiBlasi, V. R., Tryggvadóttir, R., Callahan, C. M., Idrizi, A., Hansen, K. D., & Feinberg, A. P. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/120386 · Cited by 5 · see citing works

Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neuronsPreprint

Cosgrove, D., Whitton, L., Fahey, L., Broin, P. Ó., Donohoe, G. J., & Morris, D. W. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2019.12.16.877837 · Cited by 5 · see citing works

Determinants of renin cell differentiation: a single cell epi-transcriptomics approachPreprint

Martini, A. G., Smith, J. P., Medrano, S., Sheffield, N. C., Sequeira-Lόpez, M. L. S., & Gómez, R. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.18.524595 · Cited by 5 · see citing works

Topic modeling analysis of the Allen Human Brain Atlas

Pizzini, L., Valle, F., Osella, M., & Caselle, M. (2025) · Scientific Reports · doi:10.1038/s41598-025-91079-9 · Cited by 4 · see citing works

Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration

Adrião, A., Santana, I. J., Ribeiro, C., Cancela, M. L., Conceição, N., & Grazina, M. M. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05269-0 · Cited by 4 · see citing works

Application of brain organoids in neurodevelopmental disorders

Zhao, C., Qi, Y., Xia, L., Zhu, T., & Xia, K. (2025) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2025.152405 · Cited by 3 · see citing works

5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature

Rodríguez, J. G., de la Rosa‐Fernández, E., Sarrionandia, I. L., García, E. B., Moyano, M. H., Moreno, H. J. M., & Hernández, J. S. (2024) · Pediatric Dermatology · doi:10.1111/pde.15748 · Cited by 3 · see citing works

Tremors: A concept analysis

Coleman, J. A. C., Sarasua, S. M., Boccuto, L., Moore, H. W., Skinner, S. A., & DeLuca, J. M. (2021) · Nursing Open · doi:10.1002/nop2.840 · Cited by 3 · see citing works

cGAS-mediated IFN-I signaling contributes to disease progression in drug-refractory epilepsyPreprint

Huang, Y., Fan, L., Wong, M. Y., Lei, Z., Krishnamachary, B., Zhu, D., Cadiz, M. P., Nagiri, R. K., Ye, P., Norman, K., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.30.702860 · Cited by 3 · see citing works

Identification of an episignature for the MEF2C-associated syndrome

Silva, A., Haghshenas, S., van der Laan, L., Levy, M. A., Relator, R., McConkey, H., Kerkhof, J., Skinner, S. A., Faivre, L. O., Lespinasse, J., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01983-x · Cited by 2 · see citing works

Синдром Ангельмана. Часть 3 (дифференциальная диагностика и лечение)

Абатуров, А. Е., Petrenko, L. L., & Kryvusha, O. L. (2020) · CHILD`S HEALTH · doi:10.22141/2224-0551.7.67.2015.75100 · Cited by 2 · see citing works

Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidityPreprint

Coe, B. P., Stessman, H. A. F., Sulovari, A., Geisheker, M. R., Hormozdiari, F., & Eichler, E. E. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/209908 · Cited by 2 · see citing works

Aberrant gliogenesis and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoidsPreprint

Trudler, D., Ghatak, S., Parker, J., Talantova, M. V., Grabauskas, T., Noveral, S. M., Teranaka, M., Luevanos, M., Dolatabadi, N., Bakker, C., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.11.19.387639 · Cited by 2 · see citing works

Microglial MEF2C is a uniquely human bridge between neurodevelopment and neurodegeneration

Rahman, R. J., & Bennett, M. L. (2025) · Nature Immunology · doi:10.1038/s41590-025-02313-5 · Cited by 1 · see citing works

MeCP2 Governs maternal hyperandrogenism-induced cortical defects and behavioral alterations via noncanonical AR-dependent regulation of Mef2c

Wang, Y., Jia, Y., Wu, Y., Zhao, Q., Guo, Y., Zhang, L., Jin, M., & Zheng, Y. (2026) · Nature Communications · doi:10.1038/s41467-026-72942-3 · Cited by 1 · see citing works

Hydroxytyrosol confers resilience against the depressive, anxiogenic and cognition-disruptive effects of chronic stress

Tantipongpiradet, A., Davis, R., Altieri, E. A., O'Connor, K. E., & Murphy, K. J. (2026) · Neurobiology of Stress · doi:10.1016/j.ynstr.2026.100824 · Cited by 1 · see citing works

Genetic architecture of white matter microstructure captured by unsupervised deep representation learning of fractional anisotropy maps

Zhao, X., Xie, Z., He, W., Koh, H. Y., Guo, B., Chen, H., Fornage, M., & Zhi, D. (2026) · Nature Communications · doi:10.1038/s41467-026-73996-z · Cited by 1 · see citing works

MEF2C gene variations are associated with ADHD in the Chinese Han population: a case–control study

Fu, X., Yao, T., Chen, X., Li, H., & Wu, J. (2022) · Journal of Neural Transmission · doi:10.1007/s00702-022-02490-9 · Cited by 1 · see citing works

MEF2C hypofunction in neuronal and neuroimmune populations cooperate to produce MEF2C haploinsufficiency syndrome-like behaviors in micePreprint

Harrington, A. J., Bridges, C., Blankenship, K., Assali, A., Berto, S., Siemsen, B. M., Moore, H. W., Cho, J. Y., Tsvetkov, E., Thielking, A. M., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/824151 · Cited by 1 · see citing works

Whole-brain in vivo base editing reverses autistic-like behaviors in micePreprint

Li, W., Chen, J., Peng, W., Yuan, B., Han, W., Yuan, Y., Xue, Z., Wang, J., Chen, Z., Shan, S., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.01.25.477781 · Cited by 1 · see citing works

Loss of miR-9-2 Causes Cerebral Hemorrhage and Hydrocephalus by Widespread Disruption of Cell-Type-Specific Neurodevelopmental Gene NetworksPreprint

Fregoso, S. P., Atapattu, M., Callies, K., Monet, D., Leonardson, A. S., Clark, L. V., Xu, S., & Cherry, T. J. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.07.31.668014 · Cited by 1 · see citing works

New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene

Anisimova, I. V., Леонидовна, Д. Е., Konovalov, F. A., & Акимова, И. А. (2018) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro20181184170-75

Roles of activity-dependent transcription factor Mef2c in the synaptic and morphological organization of early postnatal Purkinje neurons

Kamath, S. P. (2018) · doi:10.32657/10356/75820

Analysis of gene systems across brain disorders

Bach, S. (2021) · Dublin City University Open Access Institutional Repository (Dublin City University)

MEF2C haploinsufficiency syndrome: A severe neurodevelopmental disorder with variable epilepsy

Porter, B. E., & Paciorkowski, A. R. (2015) · Journal of Pediatric Epilepsy · doi:10.3233/pep-2012-027 · Cited by 1 · see citing works

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

Rocha, H., Sampaio, M., Rocha, R. F., Fernandes, S., & Leão, M. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.05.017 · Cited by 58 · see citing works

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Raviglione, F., Douzgou, S., Scala, M., Mingarelli, A., D’Arrigo, S., Freri, E., Darra, F., Giglio, S., Bonaglia, M. C., Pantaleoni, C., et al. (2021) · Seizure · doi:10.1016/j.seizure.2021.03.025 · Cited by 12 · see citing works

Refining the phenotype associated with MEF2C haploinsufficiency

Novara, F., Beri, S., Giorda, R., Ortibus, E., Nageshappa, S., Darra, F., Bernardina, B. D., Zuffardi, O., & Esch, H. V. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01413.x · Cited by 90 · see citing works

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

Vrečar, I., Innes, J., Jones, E. A., Kingston, H. M., Reardon, W., Kerr, B. A., Clayton‐Smith, J., & Douzgou, S. (2017) · Journal of Pediatric Genetics · doi:10.1055/s-0037-1601335 · Cited by 46 · see citing works