ReviewMolecular genetics & genomic medicine2022
Clinical findings from the landmark MEF2C-related disorders natural history study.
Review in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Investigating pain-related medication use and contribution to polypharmacy in adults with intellectual disabilities: a systematic review.BMC medicine · 2024Pooled it
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Single-cell sequencing reveals MCAMCancer cell international · 2025Article
- Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.Nature communications · 2025Article
- Developmental Disruption of Mef2c in Medial Ganglionic Eminence-Derived Cortical Inhibitory Interneurons Impairs Cellular and Circuit Function.Biological psychiatry · 2024Article
- CRISPR-based approaches for studying inborn errors of immunity.Clinical and translational medicine · 2024Article
- MEF2C Hypofunction in GABAergic Cells Alters Sociability and Prefrontal Cortex Inhibitory Synaptic Transmission in a Sex-Dependent Manner.Biological psychiatry global open science · 2024Article
- The function ofFrontiers in cellular neuroscience · 2024Review
- Integrative miRNA-mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.Brain : a journal of neurology · 2023Article
- Role of different types of RNA molecules in the severity prediction of SARS-CoV-2 patients.Pathology, research and practice · 2023Article
- Clinical findings from the landmark MEF2C-related disorders natural history study.Molecular genetics & genomic medicine · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
introductionMEF2C-related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C-related disorders across 43 studies. Despite these reports, the disorder is not easily recognized and assessments are hampered by small sample sizes. Our objective was to gather developmental and clinical information on a large number of patients.
methodsWe developed a survey based on validated instruments and subject area experts to gather information from parents of children with this condition. No personal identifiers were collected. Surveys and data were collected via REDCap and analyzed using Excel and SAS v9.4.
resultsSeventy-three parents completed the survey, with 39.7% reporting a MEF2C variant and 54.8% reporting a deletion involving MEF2C. Limited speech (82.1%), seizures (86.3%), bruxism (87.7%), repetitive movements (94.5%), and high pain tolerance (79.5%) were some of the prominent features. Patients with MEF2C variants were similarly affected as those with deletions. Female subjects showed higher verbal abilities.
conclusionThis is the largest natural history study to date and establishes a comprehensive review of developmental and clinical features for MEF2C-related disorders. This data can help providers diagnose patients and form the basis for longitudinal or genotype-phenotype studies.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.