ArticleAnnals of clinical and translational neurology2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
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- Movement Disorders in Developmental and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome.Journal of neurodevelopmental disorders · 2025Article
- Thyroid hormone promotes fetal neurogenesis.JCI insight · 2025Article
- Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models.American journal of human genetics · 2025Article
- Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.Molecular psychiatry · 2025Article
- GABA/Glutamate Neuron Differentiation Imbalance and Increased AKT/mTOR Signaling in CNTNAP2Biological psychiatry global open science · 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
- Conditional Deletion ofInternational journal of molecular sciences · 2023Article
- FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.Human molecular genetics · 2023Article
- Behavioral Phenotypes of Foxg1 Heterozygous Mice.Frontiers in pharmacology · 2022Article
- Article
- FOXR1 regulates stress response pathways and is necessary for proper brain development.PLoS genetics · 2021Article
- scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse.Development (Cambridge, England) · 2021Article
- Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.Frontiers in neurology · 2020Review
- Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.Neural plasticity · 2020Review
Corrections and comments
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Authors and funding
40 authors at 20 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous
methodsWe compiled 34 patients with a heterozygous (likely) pathogenic
resultsCharacteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner CSF spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of
interpretationCombination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for FOXG1 syndrome.
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