ArticleEuropean journal of human genetics : EJHG2011
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 66 papers.
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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.
Biobanking of Rett Syndrome and Related Disorders Protocol
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
Who cites it
66 citing papers in PubMed, 187 citations in OpenAlex.
- Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1.Nature communications · 2026Article
- Natural history of epilepsy in FOXG1 Syndrome.Epilepsy research · 2025Article
- Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.Molecular psychiatry · 2025Article
- Foxg1 gene mutation impairs auditory cortex response and reduces sound tolerance.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- PLP1-Targeting Antisense Oligonucleotides Improve FOXG1 Syndrome Mice.International journal of molecular sciences · 2024Article
- The postnatal injection of AAV9-FOXG1 rescues corpus callosum agenesis and other brain deficits in the mouse model of FOXG1 syndrome.Molecular therapy. Methods & clinical development · 2024Article
- Developmental trajectories of GABAergic cortical interneurons are sequentially modulated by dynamicProceedings of the National Academy of Sciences of the United States of America · 2024Article
- A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.Frontiers in genetics · 2024Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Transcription factors in microcephaly.Frontiers in neuroscience · 2023Review
- Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.International journal of molecular sciences · 2022Review
- Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.Genes · 2021Review
- FoxG1 regulates the formation of cortical GABAergic circuit during an early postnatal critical period resulting in autism spectrum disorder-like phenotypes.Nature communications · 2021Article
- Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.Scientific reports · 2021Article
- FOXG1 Directly Suppresses Wnt5a During the Development of the Hippocampus.Neuroscience bulletin · 2021Article
- Conditional Deletion of Foxg1 Alleviates Demyelination and Facilitates Remyelination via the Wnt Signaling Pathway in Cuprizone-Induced Demyelinated Mice.Neuroscience bulletin · 2021Article
- AAV-mediated FOXG1 gene editing in human Rett primary cells.European journal of human genetics : EJHG · 2020Article
- Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery.Human genomics · 2020Review
- Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.Molecular cytogenetics · 2020Article
- Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders.Frontiers in cellular neuroscience · 2020Review
6 more citing papers are in PubMed but not listed here.
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Authors and funding
22 authors at 12 institutions in 3 countries.
Funding
Abstract
Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and congenital anomalies, leading to the identification of several novel microdeletion and microduplication syndromes. We have identified seven individuals with duplication on chromosome 14q11.2q13.1, who exhibited idiopathic developmental delay and cognitive impairment, severe speech delay, and developmental epilepsy. Among these cases, the minimal common duplicated region on chromosome 14q11.2q13.1 includes only three genes, FOXG1, C14orf23, and PRKD1. We propose that increased dosage of Forkhead Box G1 (FOXG1) is the best candidate to explain the abnormal neurodevelopmental phenotypes observed in our patients. Deletions and inactivating mutations of FOXG1 have been associated with a Rett-like syndrome characterized by hypotonia, irritability, developmental delay, hand stereotypies, and deceleration of head growth. FOXG1, encoding a brain-specific transcription factor, has an important role in the developing brain. In fact, in vivo studies in chicken brain demonstrated that overexpression of FOXG1 results in thickening of the neuroepithelium and outgrowth of the telencephalon and mesencephalum, secondary to a reduction in neuroepithelial cell apoptosis.
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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.