> “Here, we review the pathophysiology of the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777), a recently described monogenic neurodevelopmental syndrome caused by the haploinsufficiency of NR2F1 gene, a key transcriptional regulator of brain development.” Cells, 2022, doi:10.3390/cells11081260, https://doi.org/10.3390/cells11081260 (pqac-00000010)
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> “BBSOAS is an autosomal dominant disorder characterized by delayed neurodevelopment, moderate to severe intellectual disability and visual impairment.” Brain Communications, 2021, doi:10.1093/braincomms/fcab162, https://doi.org/10.1093/braincomms/fcab162 (pqac-00000015)
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> “The visual impairment became apparent in early childhood with small and/or tilted hypoplastic optic nerves observed in 10 cases.” Brain Communications, 2021, doi:10.1093/braincomms/fcab162, https://doi.org/10.1093/braincomms/fcab162 (pqac-00000014)
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> “Interestingly, for those individuals with available longitudinal ophthalmological data, there was no significant deterioration in visual function during the period of follow-up.” Brain Communications, 2021, doi:10.1093/braincomms/fcab162, https://doi.org/10.1093/braincomms/fcab162 (pqac-00000014)
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> “The clinical observations in our study cohort, supported by the mouse data, suggest an early neurodevelopmental origin for the retinal and optic nerve head defects caused by NR2F1 pathogenic variants, resulting in congenital vision loss that seems to be non-progressive.” Brain Communications, 2021, doi:10.1093/braincomms/fcab162, https://doi.org/10.1093/braincomms/fcab162 (pqac-00000014)
>
> “Notably, Nr2f1-deficient optic nerves develop an imbalance between oligodendrocytes and astrocytes leading to postnatal hypomyelination and astrogliosis.” EMBO Molecular Medicine, 2019, doi:10.15252/emmm.201910291, https://doi.org/10.15252/emmm.201910291 (pqac-00000016)
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> “Importantly, some of these clinical features, such the optic nerve hypomyelination, could be rescued by chemical drug treatment in early postnatal life.” EMBO Molecular Medicine, 2019, doi:10.15252/emmm.201910291, https://doi.org/10.15252/emmm.201910291 (pqac-00000016)
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> “Our data point to an active role for NR2F1 in the mitochondrial gene expression regulatory network in neurons and support the involvement of mitochondrial dysfunction in BBSOAS pathogenesis.” Disease Models & Mechanisms, 2023, doi:10.1242/dmm.049854, https://doi.org/10.1242/dmm.049854 (pqac-00000009)
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> “The discovery of impaired hippocampal synaptic plasticity in the heterozygous mouse model sheds light on the pathophysiology of altered memory and cognitive function in BBSOAS.” Human Molecular Genetics, 2020, doi:10.1093/hmg/ddz233, https://doi.org/10.1093/hmg/ddz233 (pqac-00000005)
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> “Perampanel exhibits dramatic efficacy for NR2F1 -related epilepsy.” Acta Epileptologica, 2024, doi:10.1186/s42494-023-00145-0, https://doi.org/10.1186/s42494-023-00145-0 (pqac-00000022)


*Blockquote: This artifact compiles exact high-value quotes from core BBSOAS papers supporting disease definition, phenotype, non-progressive visual impairment, mechanistic findings, and a recent treatment signal for NR2F1-related epilepsy.*