Associated Papers
Effective treatment of NR2F1-related epilepsy with perampanel.
Li X et al.
Acta Epileptologica, 2024
Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.
Chen Y et al.
Plos Biology, 2023
A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.
Sun Y et al.
Medicine, 2022
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Qin Y et al.
Molecular Psychiatry, 2022
35388181 (PubMed )
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Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
Bertacchi M et al.
Cells, 2022
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Billiet B et al.
Human Mutation, 2022
Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology.
Tocco C et al.
Frontiers in Molecular Neuroscience, 2021
Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Mio C et al.
Molecular Genetics & Genomic Medicine, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME et al.
American Journal of Medical Genetics. Part A, 2020
Imbalance of Excitatory/Inhibitory Neuron Differentiation in Neurodevelopmental Disorders with an NR2F1 Point Mutation.
Zhang K et al.
Cell Reports, 2020
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Chen CA et al.
Human Molecular Genetics, 2020
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Kaiwar C et al.
Cold Spring Harbor Molecular Case Studies, 2017
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
NR2F1 mutations cause optic atrophy with intellectual disability.
Bosch DG et al.
American Journal of Human Genetics, 2014
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