ArticleNeurology. Genetics2018
Delineating
Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.Annals of neurology · 2020Trial
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.Croatian medical journal · 2026Article
- FOXG1 Hierarchically Shapes Synaptic Functions in Striatal iSPNs and Contributes to ASD Etiology.Neuroscience bulletin · 2026Article
- Reliability of Actigraphy for the Assessment of Sleep and Circadian Rhythms in Rett and Related Syndromes.Journal of intellectual disability research : JIDR · 2026Article
- Natural history of epilepsy in FOXG1 Syndrome.Epilepsy research · 2025Article
- Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome.Journal of neurodevelopmental disorders · 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
- The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.Nature communications · 2025Article
- Images: Pharmacological treatment of pediatric insomnia: a successful trial of doxepin.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 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
- Foxg1 regulates translation of neocortical neuronal genes, including the main NMDA receptor subunit gene, Grin1.BMC biology · 2024Article
- Foxg1 bimodally tunes L1-mRNA and -DNA dynamics in the developing murine neocortex.Development (Cambridge, England) · 2024Article
- Conditional Deletion ofInternational journal of molecular sciences · 2023Article
- Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.Orphanet journal of rare diseases · 2023Article
- Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.International journal of molecular sciences · 2023Review
- Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.Italian journal of pediatrics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
39 authors at 17 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo provide new insights into the
methodsWe analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic
resultsA total of 37
conclusionsThese findings have implications for genetic counseling, providing evidence that N-terminal mutations and large deletions lead to more severe
Identifiers
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.