{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T10:54:57Z","timestamp":1792580097444,"version":"4.5.0"},"reference-count":248,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondation de la Recherche M\u00e9dicale","award":["#EQU202003010222"],"award-info":[{"award-number":["#EQU202003010222"]}]},{"DOI":"10.13039\/501100004431","name":"Fondation de France","doi-asserted-by":"publisher","award":["WB-2021-38751"],"award-info":[{"award-number":["WB-2021-38751"]}],"id":[{"id":"10.13039\/501100004431","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>The formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation. Any impairment of these interconnected multi-factorial processes can affect brain structure and function and lead to distinctive neurodevelopmental disorders. Here, we review the pathophysiology of the Bosch\u2013Boonstra\u2013Schaaf 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. Although intellectual disability, developmental delay and visual impairment are arguably the most common symptoms affecting BBSOAS patients, multiple additional features are often reported, including epilepsy, autistic traits and hypotonia. The presence of specific symptoms and their variable level of severity might depend on still poorly characterized genotype\u2013phenotype correlations. We begin with an overview of the several mutations of NR2F1 identified to date, then further focuses on the main pathological features of BBSOAS patients, providing evidence\u2014whenever possible\u2014for the existing genotype\u2013phenotype correlations. On the clinical side, we lay out an up-to-date list of clinical examinations and therapeutic interventions recommended for children with BBSOAS. On the experimental side, we describe state-of-the-art in vivo and in vitro studies aiming at deciphering the role of mouse Nr2f1, in physiological conditions and in pathological contexts, underlying the BBSOAS features. Furthermore, by modeling distinct NR2F1 genetic alterations in terms of dimer formation and nuclear receptor binding efficiencies, we attempt to estimate the total amounts of functional NR2F1 acting in developing brain cells in normal and pathological conditions. Finally, using the NR2F1 gene and BBSOAS as a paradigm of monogenic rare neurodevelopmental disorder, we aim to set the path for future explorations of causative links between impaired brain development and the appearance of symptoms in human neurological syndromes.<\/jats:p>","DOI":"10.3390\/cells11081260","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T12:11:14Z","timestamp":1649419874000},"page":"1260","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4402-4974","authenticated-orcid":false,"given":"Michele","family":"Bertacchi","sequence":"first","affiliation":[{"name":"Institute of Biology Valrose (IBV), University C\u00f4te d\u2019Azur, 06108 Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2616-0198","authenticated-orcid":false,"given":"Chiara","family":"Tocco","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (IBV), University C\u00f4te d\u2019Azur, 06108 Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2148-7490","authenticated-orcid":false,"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7105-2957","authenticated-orcid":false,"given":"Mich\u00e8le","family":"Studer","sequence":"additional","affiliation":[{"name":"Institute of Biology Valrose (IBV), University C\u00f4te d\u2019Azur, 06108 Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.ajhg.2014.01.002","article-title":"NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability","volume":"94","author":"Bosch","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1101\/gad.913601","article-title":"COUP-TFI: An Intrinsic Factor for Early Regionalization of the Neocortex","volume":"15","author":"Zhou","year":"2001","journal-title":"Genes Dev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.brainres.2018.04.024","article-title":"The Pleiotropic Transcriptional Regulator COUP-TFI Plays Multiple Roles in Neural Development and Disease","volume":"1705","author":"Bertacchi","year":"2018","journal-title":"Brain Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.bbagrm.2014.05.022","article-title":"COUP-TFs and Eye Development","volume":"1849","author":"Tang","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"767965","DOI":"10.3389\/fnmol.2021.767965","article-title":"Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology","volume":"14","author":"Tocco","year":"2021","journal-title":"Front. Mol. Neurosci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"5632","DOI":"10.1038\/ncomms6632","article-title":"Postmitotic Control of Sensory Area Specification during Neocortical Development","volume":"5","author":"Alfano","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1038\/nn1958","article-title":"COUP-TFI Regulates the Balance of Cortical Patterning between Frontal\/Motor and Sensory Areas","volume":"10","author":"Armentano","year":"2007","journal-title":"Nat. Neurosci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e104163","DOI":"10.15252\/embj.2019104163","article-title":"NR2F1 Regulates Regional Progenitor Dynamics in the Mouse Neocortex and Cortical Gyrification in BBSOAS Patients","volume":"39","author":"Bertacchi","year":"2020","journal-title":"EMBO J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1093\/cercor\/bhm238","article-title":"COUP-TFI Coordinates Cortical Patterning, Neurogenesis, and Laminar Fate and Modulates MAPK\/ERK, AKT, and \u00df-Catenin Signaling","volume":"18","author":"Faedo","year":"2008","journal-title":"Cereb. Cortex"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"3576","DOI":"10.1073\/pnas.0911792107","article-title":"Area-Specific Temporal Control of Corticospinal Motor Neuron Differentiation by COUP-TFI","volume":"107","author":"Tomassy","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1093\/hmg\/ddz233","article-title":"Nr2f1 Heterozygous Knockout Mice Recapitulate Neurological Phenotypes of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Show Impaired Hippocampal Synaptic Plasticity","volume":"29","author":"Chen","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"bhv336","DOI":"10.1093\/cercor\/bhv336","article-title":"Gradient COUP-TFI Expression Is Required for Functional Organization of the Hippocampal Septo-Temporal Longitudinal Axis","volume":"27","author":"Flore","year":"2016","journal-title":"Cereb. Cortex"},{"key":"ref_13","first-page":"2045","article-title":"COUP-TFI Mitotically Regulates Production and Migration of Dentate Granule Cells and Modulates Hippocampal Cxcr4 Expression","volume":"144","author":"Parisot","year":"2017","journal-title":"Dev. Camb. Engl."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"4650","DOI":"10.1523\/JNEUROSCI.6580-10.2011","article-title":"Loss of COUP-TFI Alters the Balance between Caudal Ganglionic Eminence- and Medial Ganglionic Eminence-Derived Cortical Interneurons and Results in Resistance to Epilepsy","volume":"31","author":"Lodato","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_15","first-page":"1753","article-title":"Molecular Control of Two Novel Migratory Paths for CGE-Derived Interneurons in the Developing Mouse Brain","volume":"143","author":"Touzot","year":"2016","journal-title":"Development"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e10291","DOI":"10.15252\/emmm.201910291","article-title":"Mouse Nr2f1 Haploinsufficiency Unveils New Pathological Mechanisms of a Human Optic Atrophy Syndrome","volume":"11","author":"Bertacchi","year":"2019","journal-title":"EMBO Mol. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1242\/dev.040568","article-title":"COUP-TFs Regulate Eye Development by Controlling Factors Essential for Optic Vesicle Morphogenesis","volume":"137","author":"Tang","year":"2010","journal-title":"Development"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1038\/nn.2168","article-title":"Requirement for COUP-TFI and II in the Temporal Specification of Neural Stem Cells in CNS Development","volume":"11","author":"Naka","year":"2008","journal-title":"Nat. Neurosci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.conb.2009.04.003","article-title":"Cell Types to Order: Temporal Specification of CNS Stem Cells","volume":"19","author":"Okano","year":"2009","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"del Pino, I., Tocco, C., Magrinelli, E., Marcantoni, A., Ferraguto, C., Tomagra, G., Bertacchi, M., Alfano, C., Leinekugel, X., and Frick, A. COUP-TFI\/Nr2f1 Orchestrates Intrinsic Neuronal Activity during Cortical Area Patterning. bioRxiv, 2019.","DOI":"10.1101\/728402"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2309","DOI":"10.1007\/s00429-016-1343-5","article-title":"Distinct Cortical and Sub-Cortical Neurogenic Domains for GABAergic Interneuron Precursor Transcription Factors NKX2.1, OLIG2 and COUP-TFII in Early Fetal Human Telencephalon","volume":"222","author":"Lindsay","year":"2017","journal-title":"Brain Struct. Funct."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"4971","DOI":"10.1093\/cercor\/bhx185","article-title":"The Transcription Factors COUP-TFI and COUP-TFII Have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon","volume":"27","author":"Lindsay","year":"2017","journal-title":"Cereb. Cortex"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1007\/s00429-021-02242-7","article-title":"Dynamic Expression of NR2F1 and SOX2 in Developing and Adult Human Cortex: Comparison with Cortical Malformations","volume":"226","author":"Foglio","year":"2021","journal-title":"Brain Struct. Funct."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/bs.ctdb.2016.12.002","article-title":"COUP\u2014TF Genes, Human Diseases, and the Development of the Central Nervous System in Murine Models","volume":"Volume 125","author":"Yang","year":"2017","journal-title":"Current Topics in Developmental Biology"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"4846","DOI":"10.1093\/hmg\/ddu199","article-title":"The Genetic Landscape of Infantile Spasms","volume":"23","author":"Michaud","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nature10945","article-title":"De Novo Mutations Revealed by Whole-Exome Sequencing Are Strongly Associated with Autism","volume":"485","author":"Sanders","year":"2012","journal-title":"Nature"},{"key":"ref_27","first-page":"377","article-title":"NR2F1 Haploinsufficiency Is Associated with Optic Atrophy, Dysmorphism and Global Developmental Delay","volume":"161A","author":"Shimony","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1002\/ajmg.a.32764","article-title":"NR2F1 Deletion in a Patient with a de Novo Paracentric Inversion, Inv(5)(Q15q33.2), and Syndromic Deafness","volume":"149A","author":"Brown","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1212\/01.wnl.0000336339.08878.2d","article-title":"Periventricular Heterotopia, Mental Retardation, and Epilepsy Associated with 5q14.3-Q15 Deletion","volume":"72","author":"Cardoso","year":"2009","journal-title":"Neurology"},{"key":"ref_30","first-page":"1143","article-title":"The Expanding Clinical Phenotype of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: 20 New Cases and Possible Genotype-Phenotype Correlations","volume":"18","author":"Chen","year":"2016","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/2040-2392-4-36","article-title":"SFARI Gene 2.0: A Community-Driven Knowledgebase for the Autism Spectrum Disorders (ASDs)","volume":"4","author":"Abrahams","year":"2013","journal-title":"Mol. Autism"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/humu.24305","article-title":"NR2F1 Database: 112 Variants and 84 Patients Support Refining the Clinical Synopsis of Bosch\u2013Boonstra\u2013Schaaf Optic Atrophy Syndrome","volume":"43","author":"Billiet","year":"2021","journal-title":"Hum. Mutat."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ajmg.a.61409","article-title":"Clinical and Neurocognitive Issues Associated with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: A Case Study","volume":"182","author":"Bojanek","year":"2019","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.seizure.2017.06.018","article-title":"Long-Term Outcome of a 26-Year-Old Woman with West Syndrome and an Nuclear Receptor Subfamily 2 Group F Member 1 Gene (NR2F1) Mutation","volume":"50","author":"Kikuchi","year":"2017","journal-title":"Seizure"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"a002162","DOI":"10.1101\/mcs.a002162","article-title":"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","volume":"3","author":"Kaiwar","year":"2017","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e1278","DOI":"10.1002\/mgg3.1278","article-title":"Missense NR2F1 Variant in Monozygotic Twins Affected with the Bosch\u2013Boonstra\u2013Schaaf Optic Atrophy Syndrome","volume":"8","author":"Mio","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1080\/13816810.2019.1650074","article-title":"Targeted Panel Sequencing Identifies a Novel NR2F1 Mutations in a Patient with Bosch\u2013Boonstra\u2013Schaaf Optic Atrophy Syndrome","volume":"40","author":"Park","year":"2019","journal-title":"Ophthalmic Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1002\/ajmg.a.61580","article-title":"Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations","volume":"182","author":"Rech","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"104019","DOI":"10.1016\/j.ejmg.2020.104019","article-title":"Novel Dominant-Negative NR2F1 Frameshift Mutation and a Phenotypic Expansion of the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome","volume":"63","author":"Walsh","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1080\/13816810.2020.1719520","article-title":"A de Novo Nonsense Mutation in the N-Terminal of Ligand-Binding Domain of NR2F1 Gene Provoked a Milder Phenotype of BBSOAS","volume":"41","author":"Zou","year":"2020","journal-title":"Ophthalmic Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"fcab162","DOI":"10.1093\/braincomms\/fcab162","article-title":"Pathogenic NR2F1 Variants Cause a Developmental Ocular Phenotype Recapitulated in a Mutant Mouse Model","volume":"3","author":"Jurkute","year":"2021","journal-title":"Brain Commun."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1097\/PRA.0000000000000440","article-title":"Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review","volume":"26","author":"Hobbs","year":"2020","journal-title":"J. Psychiatr. Pract."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/s10038-017-0398-3","article-title":"Mitochondrial Involvement in a Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Patient with a Novel de Novo NR2F1 Gene Mutation","volume":"63","author":"Chen","year":"2018","journal-title":"J. Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"103941","DOI":"10.1016\/j.ejmg.2020.103941","article-title":"Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) Initially Diagnosed as ALG6-CDG: Functional Evidence for Benignity of the ALG6 c.391T>C (p.Tyr131His) Variant and Further Expanding the BBSOAS Phenotype","volume":"63","author":"Starosta","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial Optic Neuropathies\u2014Disease Mechanisms and Therapeutic Strategies","volume":"30","author":"Griffiths","year":"2011","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/s41431-018-0235-y","article-title":"Clinical Utility Gene Card for: Inherited Optic Neuropathies Including next-Generation Sequencing-Based Approaches","volume":"27","author":"Jurkute","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/eye.2011.2","article-title":"Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations","volume":"25","author":"Bailie","year":"2011","journal-title":"Eye"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1111\/opo.12229","article-title":"Association of Refractive Error with Optic Nerve Hypoplasia","volume":"35","author":"Pang","year":"2015","journal-title":"Ophthalmic Physiol. Opt. J. Br. Coll. Ophthalmic Opt. Optom."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0228622","article-title":"Whole Genome Sequencing Unveils Genetic Heterogeneity in Optic Nerve Hypoplasia","volume":"15","author":"Dahl","year":"2020","journal-title":"PLoS ONE"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"5","DOI":"10.2174\/1874364101610010005","article-title":"Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia","volume":"10","author":"Karahan","year":"2016","journal-title":"Open Ophthalmol. J."},{"key":"ref_51","first-page":"1437","article-title":"Hypoplasia of the Optic Nerve","volume":"96","author":"Mosier","year":"1978","journal-title":"Arch. Ophthalmol. Chic. Ill 1960"},{"key":"ref_52","first-page":"1271","article-title":"Developmental Abnormalities of the Optic Nerve and Chiasm","volume":"21","author":"Taylor","year":"2007","journal-title":"Eye Lond. Engl."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"77","DOI":"10.4103\/0974-620X.116622","article-title":"Kamlesh Optic Nerve Hypoplasia","volume":"6","author":"Kaur","year":"2013","journal-title":"Oman J. Ophthalmol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1016\/j.ophtha.2015.03.020","article-title":"High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia","volume":"122","author":"Pilat","year":"2015","journal-title":"Ophthalmology"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/eye.1992.39","article-title":"Do We Really Understand the Difference between Optic Nerve Hypoplasia and Atrophy?","volume":"6","author":"Hoyt","year":"1992","journal-title":"Eye"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1177\/1120672119899378","article-title":"Optic Atrophy in Children: Current Causes and Diagnostic Approach","volume":"30","author":"Jones","year":"2020","journal-title":"Eur. J. Ophthalmol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/IIO.0000000000000244","article-title":"Pediatric Optic Disc Pallor","volume":"58","author":"McClard","year":"2018","journal-title":"Int. Ophthalmol. Clin."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1007\/s00401-016-1625-2","article-title":"A Neurodegenerative Perspective on Mitochondrial Optic Neuropathies","volume":"132","author":"Votruba","year":"2016","journal-title":"Acta Neuropathol."},{"key":"ref_59","unstructured":"Ludwig, P.E., Lopez, M.J., and Czyz, C.N. (2021). Embryology, Eye Malformations. StatPearls, StatPearls Publishing."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.yapd.2016.04.009","article-title":"The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines","volume":"63","author":"Stewart","year":"2016","journal-title":"Adv. Pediatr."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/s11940-012-0209-2","article-title":"Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations","volume":"15","author":"Borchert","year":"2013","journal-title":"Curr. Treat. Options Neurol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1542\/peds.2007-1825","article-title":"Neuroradiographic, Endocrinologic, and Ophthalmic Correlates of Adverse Developmental Outcomes in Children with Optic Nerve Hypoplasia: A Prospective Study","volume":"121","author":"Epport","year":"2008","journal-title":"Pediatrics"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1086\/375555","article-title":"Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations","volume":"72","author":"Azuma","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1136\/jmedgenet-2017-104626","article-title":"Genetic Causes of Optic Nerve Hypoplasia","volume":"54","author":"Chen","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_65","first-page":"2442","article-title":"Mutations within Sox2\/SOX2 Are Associated with Abnormalities in the Hypothalamo-Pituitary-Gonadal Axis in Mice and Humans","volume":"116","author":"Kelberman","year":"2006","journal-title":"J. Clin. Investig."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s00018-013-1320-6","article-title":"The Nuclear Receptors COUP-TF: A Long-Lasting Experience in Forebrain Assembly","volume":"71","author":"Alfano","year":"2014","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ydbio.2003.10.038","article-title":"The Nuclear Orphan Receptor COUP-TFI Is Important for Differentiation of Oligodendrocytes","volume":"266","author":"Yamaguchi","year":"2004","journal-title":"Dev. Biol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"45780","DOI":"10.1038\/srep45780","article-title":"A Staged Screening of Registered Drugs Highlights Remyelinating Drug Candidates for Clinical Trials","volume":"7","author":"Eleuteri","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3389\/fneur.2015.00257","article-title":"Remyelination Therapy in Multiple Sclerosis","volume":"6","author":"Harlow","year":"2015","journal-title":"Front. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature14335","article-title":"Drug-Based Modulation of Endogenous Stem Cells Promotes Functional Remyelination In Vivo","volume":"522","author":"Najm","year":"2015","journal-title":"Nature"},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Porcu, G., Serone, E., De Nardis, V., Di Giandomenico, D., Lucisano, G., Scardapane, M., Poma, A., and Ragnini-Wilson, A. (2015). Clobetasol and Halcinonide Act as Smoothened Agonists to Promote Myelin Gene Expression and RxR\u03b3 Receptor Activation. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0144550"},{"key":"ref_72","first-page":"2443","article-title":"Protective Effect of Miconazole on Rat Myelin Sheaths Following Premature Infant Cerebral White Matter Injury","volume":"15","author":"Su","year":"2018","journal-title":"Exp. Ther. Med."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.survophthal.2019.06.001","article-title":"Critical Review: Typical and Atypical Optic Neuritis","volume":"64","author":"Abel","year":"2019","journal-title":"Surv. Ophthalmol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"580951","DOI":"10.3389\/fneur.2020.580951","article-title":"Rodent Models of Optic Neuritis","volume":"11","author":"Redler","year":"2020","journal-title":"Front. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"4859","DOI":"10.1167\/iovs.16-19871","article-title":"Modeling the Chronic Loss of Optic Nerve Axons and the Effects on the Retinal Nerve Fiber Layer Structure in Primary Disorder of Myelin","volume":"57","author":"Teixeira","year":"2016","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"12401","DOI":"10.1523\/JNEUROSCI.0951-09.2009","article-title":"The Spatial Patterning of Mouse Cone Opsin Expression Is Regulated by Bone Morphogenetic Protein Signaling through Downstream Effector COUP-TF Nuclear Receptors","volume":"29","author":"Satoh","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.exer.2009.09.009","article-title":"COUP-TFI and -TFII Nuclear Receptors Are Expressed in Amacrine Cells and Play Roles in Regulating the Differentiation of Retinal Progenitor Cells","volume":"90","author":"Inoue","year":"2010","journal-title":"Exp. Eye Res."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0039-6257(98)00049-6","article-title":"Ophthalmoscopic Evaluation of the Optic Nerve Head","volume":"43","author":"Jonas","year":"1999","journal-title":"Surv. Ophthalmol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/WCO.0000000000000637","article-title":"Examining the Ocular Fundus in Neurology","volume":"32","author":"Rodenbeck","year":"2019","journal-title":"Curr. Opin. Neurol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"125","DOI":"10.17305\/bjbms.2010.2711","article-title":"Optic Disc Abnormalities\u2014Diagnosis, Evolution and Influence on Visual Acuity","volume":"10","year":"2010","journal-title":"Bosn. J. Basic Med. Sci."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/sj.eye.6701545","article-title":"Congenital Disorders of the Optic Nerve: Excavations and Hypoplasia","volume":"18","author":"Dutton","year":"2004","journal-title":"Eye"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1097\/ICU.0000000000000425","article-title":"Congenital Anomalies of the Optic Disc: Insights from Optical Coherence Tomography Imaging","volume":"28","author":"Cestari","year":"2017","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1097\/OPX.0000000000001536","article-title":"Topical Review: Optic Disc Pits and Associated Maculopathy","volume":"97","author":"Anglo","year":"2020","journal-title":"Optom. Vis. Sci."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.survophthal.2019.02.006","article-title":"Optic Disk Pits and Optic Disk Pit Maculopathy: A Review","volume":"64","author":"Uzel","year":"2019","journal-title":"Surv. Ophthalmol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1002\/ajmg.a.62569","article-title":"Deciphering Developmental Disorders Study A Severe Case of Bosch\u2013 Boonstra\u2013Schaaf Optic Atrophy Syndrome with a Novel Description of Coloboma and Septo-optic Dysplasia, Owing to a Start Codon Variant in the NR2F1 Gene","volume":"188","author":"Gazdagh","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0896-6273(00)80373-6","article-title":"Netrin-1 and DCC Mediate Axon Guidance Locally at the Optic Disc: Loss of Function Leads to Optic Nerve Hypoplasia","volume":"19","author":"Deiner","year":"1997","journal-title":"Neuron"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"3179","DOI":"10.1242\/dev.02493","article-title":"Proper Patterning of the Optic Fissure Requires the Sequential Activity of BMP7 and SHH","volume":"133","author":"Morcillo","year":"2006","journal-title":"Development"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/S0002-9394(01)01231-4","article-title":"Renal-Coloboma Syndrome: Report of a Novel PAX2 Gene Mutation","volume":"132","author":"Chung","year":"2001","journal-title":"Am. J. Ophthalmol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1034\/j.1399-0004.1999.560101.x","article-title":"Renal-Coloboma Syndrome: A Multi-System Developmental Disorder Caused by PAX2 Mutations: PAX2 Mutation in Renal-Coloboma Syndrome","volume":"56","author":"Eccles","year":"1999","journal-title":"Clin. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/0039-6257(94)90073-6","article-title":"Cortical Visual Impairment in Children. 14","volume":"38","author":"Good","year":"1994","journal-title":"Surv. Ophthalmol."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1111\/j.1469-8749.2001.tb00387.x","article-title":"Recent Advances in Cortical Visual Impairment","volume":"43","author":"Good","year":"2007","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/sj.eye.6700364","article-title":"Visual Function in the Brain-Damaged Child","volume":"17","author":"Hoyt","year":"2003","journal-title":"Eye"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1136\/bjo.83.6.670","article-title":"Chronic Cortical Visual Impairment in Children: Aetiology, Prognosis, and Associated Neurological Deficits","volume":"83","author":"Huo","year":"1999","journal-title":"Br. J. Ophthalmol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.1469-8749.1987.tb08498.x","article-title":"Behavioural Characteristics Of Children With Permanent Cortical Visual Impairment","volume":"29","author":"Jan","year":"2008","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1080\/00207450600553505","article-title":"Rehabilitation of Cortical Visual Impairment in Children","volume":"116","author":"Malkowicz","year":"2006","journal-title":"Int. J. Neurosci."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/opo.12776","article-title":"What Assessments Are Currently Used to Investigate and Diagnose Cerebral Visual Impairment (CVI) in Children? A Systematic Review","volume":"41","author":"McConnell","year":"2021","journal-title":"Ophthalmic Physiol. Opt."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/cxo.12155","article-title":"Identifying and Characterising Cerebral Visual Impairment in Children: A Review: Cerebral Visual Impairment in Children: A Review","volume":"97","author":"Philip","year":"2014","journal-title":"Clin. Exp. Optom."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1136\/bjophthalmol-2017-310694","article-title":"Is There Consensus in Defining Childhood Cerebral Visual Impairment? A Systematic Review of Terminology and Definitions","volume":"102","author":"Sakki","year":"2018","journal-title":"Br. J. Ophthalmol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1126\/science.1232806","article-title":"Geniculocortical Input Drives Genetic Distinctions Between Primary and Higher-Order Visual Areas","volume":"340","author":"Chou","year":"2013","journal-title":"Science"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1016\/j.neuron.2019.07.009","article-title":"Development and Arealization of the Cerebral Cortex","volume":"103","author":"Cadwell","year":"2019","journal-title":"Neuron"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/dneu.22067","article-title":"Neocortical Arealization: Evolution, Mechanisms, and Open Questions","volume":"73","author":"Alfano","year":"2013","journal-title":"Dev. Neurobiol."},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Hofman, J., Hutny, M., Sztuba, K., and Paprocka, J. (2020). Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms. Brain Sci., 10.","DOI":"10.3390\/brainsci10090625"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/nrn2107","article-title":"Agenesis of the Corpus Callosum: Genetic, Developmental and Functional Aspects of Connectivity","volume":"8","author":"Paul","year":"2007","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"2501","DOI":"10.1002\/ajmg.a.32476","article-title":"Agenesis and Dysgenesis of the Corpus Callosum: Clinical, Genetic and Neuroimaging Findings in a Series of 41 Patients","volume":"146A","author":"Wagner","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"4685","DOI":"10.1242\/dev.068031","article-title":"COUP-TFI Promotes Radial Migration and Proper Morphology of Callosal Projection Neurons by Repressing Rnd2 Expression","volume":"138","author":"Alfano","year":"2011","journal-title":"Development"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1242\/dev.02600","article-title":"COUP-TFI Is Required for the Formation of Commissural Projections in the Forebrain by Regulating Axonal Growth","volume":"133","author":"Armentano","year":"2006","journal-title":"Development"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1016\/B978-0-444-52910-7.00048-9","article-title":"Acute Disseminated Encephalomyelitis","volume":"Volume 112","author":"Tenembaum","year":"2013","journal-title":"Handbook of Clinical Neurology"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"14515","DOI":"10.1073\/pnas.0406344101","article-title":"Spatial Memory, Recognition Memory, and the Hippocampus","volume":"101","author":"Broadbent","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"2322","DOI":"10.1016\/j.neuropsychologia.2013.02.011","article-title":"Medial Temporal Lobe Contributions to Cued Retrieval of Items and Contexts","volume":"51","author":"Hannula","year":"2013","journal-title":"Neuropsychologia"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"7254","DOI":"10.1523\/JNEUROSCI.1103-05.2005","article-title":"The Human Hippocampus: Cognitive Maps or Relational Memory?","volume":"25","author":"Kumaran","year":"2005","journal-title":"J. Neurosci."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1460-9568.2006.04910.x","article-title":"Intrahippocampal Injection of Endothelin-1 in Immature Rats Results in Neuronal Death, Development of Epilepsy and Behavioral Abnormalities Later in Life","volume":"24","author":"Tsenov","year":"2006","journal-title":"Eur. J. Neurosci."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.physbeh.2008.01.004","article-title":"Hippocampal Damage Impairs Long-Term Spatial Memory in Rats: Comparison between Electrolytic and Neurotoxic Lesions","volume":"93","author":"Ramos","year":"2008","journal-title":"Physiol. Behav."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.brainresbull.2021.01.007","article-title":"Repeated Exposure to Propofol in the Neonatal Period Impairs Hippocampal Synaptic Plasticity and the Recognition Function of Rats in Adulthood","volume":"169","author":"Wan","year":"2021","journal-title":"Brain Res. Bull."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"522","DOI":"10.3389\/fnagi.2020.597491","article-title":"Visual Abnormalities Associate With Hippocampus in Mild Cognitive Impairment and Early Alzheimer\u2019s Disease","volume":"12","author":"Zhao","year":"2021","journal-title":"Front. Aging Neurosci."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"9697","DOI":"10.1073\/pnas.92.21.9697","article-title":"Spatial Learning with a Minislab in the Dorsal Hippocampus","volume":"92","author":"Moser","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"4212","DOI":"10.1093\/cercor\/bhw251","article-title":"Four Functionally Distinct Regions in the Left Supramarginal Gyrus Support Word Processing","volume":"26","author":"Oberhuber","year":"2016","journal-title":"Cereb. Cortex"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1177\/1073858412440596","article-title":"The Angular Gyrus: Multiple Functions and Multiple Subdivisions","volume":"19","author":"Seghier","year":"2013","journal-title":"Neuroscientist"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1016\/j.cortex.2008.12.004","article-title":"Supramarginal Gyrus Involvement in Visual Word Recognition","volume":"45","author":"Stoeckel","year":"2009","journal-title":"Cortex"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/S1474-4422(14)70040-7","article-title":"Malformations of Cortical Development: Clinical Features and Genetic Causes","volume":"13","author":"Guerrini","year":"2014","journal-title":"Lancet Neurol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1146\/annurev-pathmechdis-012418-012927","article-title":"Malformations of Cerebral Cortex Development: Molecules and Mechanisms","volume":"14","author":"Hevner","year":"2019","journal-title":"Annu. Rev. Pathol. Mech. Dis."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1159\/000448639","article-title":"Genetic Basis of Brain Malformations","volume":"7","author":"Parrini","year":"2016","journal-title":"Mol. Syndromol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/nature08845","article-title":"Neurogenic Radial Glia in the Outer Subventricular Zone of Human Neocortex","volume":"464","author":"Hansen","year":"2010","journal-title":"Nature"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"3683","DOI":"10.1523\/JNEUROSCI.4773-10.2011","article-title":"Oblique Radial Glial Divisions in the Developing Mouse Neocortex Induce Self-Renewing Progenitors Outside the Germinal Zone That Resemble Primate Outer Subventricular Zone Progenitors","volume":"31","author":"Shitamukai","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"dev169276","DOI":"10.1242\/dev.169276","article-title":"A Novel Population of Hopx-Dependent Basal Radial Glial Cells in the Developing Mouse Neocortex","volume":"145","author":"Vaid","year":"2018","journal-title":"Development"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/nn.2807","article-title":"A New Subtype of Progenitor Cell in the Mouse Embryonic Neocortex","volume":"14","author":"Wang","year":"2011","journal-title":"Nat. Neurosci."},{"key":"ref_127","doi-asserted-by":"crossref","unstructured":"Wong, F.K., Fei, J.-F., Mora-Berm\u00fadez, F., Taverna, E., Haffner, C., Fu, J., Anastassiadis, K., Stewart, A.F., and Huttner, W.B. (2015). Sustained Pax6 Expression Generates Primate-like Basal Radial Glia in Developing Mouse Neocortex. PLoS Biol., 13.","DOI":"10.1371\/journal.pbio.1002217"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1038\/nn.2553","article-title":"OSVZ Progenitors of Human and Ferret Neocortex Are Epithelial-like and Expand by Integrin Signaling","volume":"13","author":"Fietz","year":"2010","journal-title":"Nat. Neurosci."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.stem.2016.12.007","article-title":"Human IPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia","volume":"20","author":"Bershteyn","year":"2017","journal-title":"Cell Stem Cell"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.stem.2016.11.017","article-title":"Induction of Expansion and Folding in Human Cerebral Organoids","volume":"20","author":"Li","year":"2017","journal-title":"Cell Stem Cell"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/nprot.2017.152","article-title":"Generation of Human Brain Region\u2013Specific Organoids Using a Miniaturized Spinning Bioreactor","volume":"13","author":"Qian","year":"2018","journal-title":"Nat. Protoc."},{"key":"ref_132","doi-asserted-by":"crossref","unstructured":"Autism Sequencing Consortium, Lim, E.T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A.S., Zhang, X., D\u2019Gama, A.M., Kim, S.N., and Hill, R.S. (2017). Rates, Distribution and Implications of Postzygotic Mosaic Mutations in Autism Spectrum Disorder. Nat. Neurosci., 20, 1217\u20131224.","DOI":"10.1038\/nn.4598"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.cell.2013.10.031","article-title":"Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism","volume":"155","author":"Parikshak","year":"2013","journal-title":"Cell"},{"key":"ref_134","doi-asserted-by":"crossref","unstructured":"The DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, The Autism Sequencing Consortium, De Rubeis, S., He, X., Goldberg, A.P., Poultney, C.S., Samocha, K., and Ercument Cicek, A. (2014). Synaptic, Transcriptional and Chromatin Genes Disrupted in Autism. Nature, 515, 209\u2013215.","DOI":"10.1038\/nature13772"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"6404","DOI":"10.1038\/ncomms7404","article-title":"The Autism-Associated Chromatin Modifier CHD8 Regulates Other Autism Risk Genes during Human Neurodevelopment","volume":"6","author":"Cotney","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1007\/s10803-007-0532-8","article-title":"Repetitive and Stereotyped Behaviors in Children with Autism Spectrum Disorders in the Second Year of Life","volume":"38","author":"Watt","year":"2008","journal-title":"J. Autism Dev. Disord."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"77","DOI":"10.3109\/09273972.2011.600417","article-title":"Manneristic Behaviors of Visually Impaired Children","volume":"19","author":"Molloy","year":"2011","journal-title":"Strabismus"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/epi.12103","article-title":"Treatment of Behavioral Problems in Intellectually Disabled Adult Patients with Epilepsy","volume":"54","author":"Kerr","year":"2013","journal-title":"Epilepsia"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/j.1365-2788.2012.01534.x","article-title":"Recent Research on Aetiology, Development and Phenomenology of Self-Injurious Behaviour in People with Intellectual Disabilities: A Systematic Review and Implications for Treatment: Aetiology & Phenomenology of SIB in ID: A Systematic Review","volume":"56","author":"Furniss","year":"2012","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"169","DOI":"10.33160\/yam.2019.06.001","article-title":"Assessments and Interventions to Address Challenging Behavior in Individuals with Intellectual Disability and Autism Spectrum Disorder in Japan: A Consolidated Review","volume":"62","author":"Inoue","year":"2019","journal-title":"Yonago Acta Med."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s10882-008-9124-6","article-title":"The Interrelationships of Psychopathology Symptoms on Social Skills in Adults with Autism or PDD-NOS and Intellectual Disability","volume":"21","author":"Matson","year":"2009","journal-title":"J. Dev. Phys. Disabil."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/YCO.0000000000000313","article-title":"Self-Injurious Behaviour in People with Intellectual Disability and Autism Spectrum Disorder","volume":"30","author":"Oliver","year":"2017","journal-title":"Curr. Opin. Psychiatry"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/j.ridd.2010.07.002","article-title":"Social Skills: Differences among Adults with Intellectual Disabilities, Co-Morbid Autism Spectrum Disorders and Epilepsy","volume":"31","author":"Smith","year":"2010","journal-title":"Res. Dev. Disabil."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1111\/j.1365-2788.2006.00948.x","article-title":"Challenging Behaviours: Prevalence and Topographies","volume":"51","author":"Lowe","year":"2007","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/aur.108","article-title":"Autism Spectrum and Obsessive\u2013Compulsive Disorders: OC Behaviors, Phenotypes and Genetics","volume":"2","author":"Jacob","year":"2009","journal-title":"Autism Res."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1365-2788.2011.01519.x","article-title":"Abnormal Repetitive Behaviours: Shared Phenomenology and Pathophysiology: Abnormal Repetitive Behaviours","volume":"56","author":"Muehlmann","year":"2012","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.tins.2007.12.005","article-title":"Neuroanatomy of Autism","volume":"31","author":"Amaral","year":"2008","journal-title":"Trends Neurosci."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"273","DOI":"10.5607\/en.2015.24.4.273","article-title":"Characteristics of Brains in Autism Spectrum Disorder: Structure, Function and Connectivity across the Lifespan","volume":"24","author":"Ha","year":"2015","journal-title":"Exp. Neurobiol."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.biopsych.2020.10.014","article-title":"Longitudinal Evaluation of Cerebral Growth Across Childhood in Boys and Girls With Autism Spectrum Disorder","volume":"90","author":"Lee","year":"2020","journal-title":"Biol. Psychiatry"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.biopsych.2020.06.014","article-title":"Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals","volume":"89","author":"Adhya","year":"2021","journal-title":"Biol. Psychiatry"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.cell.2015.06.034","article-title":"FOXG1-Dependent Dysregulation of GABA\/Glutamate Neuron Differentiation in Autism Spectrum Disorders","volume":"162","author":"Mariani","year":"2015","journal-title":"Cell"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"20180944","DOI":"10.1259\/bjr.20180944","article-title":"Revisiting the Excitation\/Inhibition Imbalance Hypothesis of ASD through a Clinical Lens","volume":"92","author":"Port","year":"2019","journal-title":"Br. J. Radiol."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"111302","DOI":"10.1016\/j.pscychresns.2021.111302","article-title":"Glutamate and Functional Connectivity\u2014Support for the Excitatory-Inhibitory Imbalance Hypothesis in Autism Spectrum Disorders","volume":"313","author":"Romaniuk","year":"2021","journal-title":"Psychiatry Res. Neuroimaging"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1016\/j.cell.2013.10.020","article-title":"Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism","volume":"155","author":"Willsey","year":"2013","journal-title":"Cell"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"107521","DOI":"10.1016\/j.celrep.2020.03.085","article-title":"Imbalance of Excitatory\/Inhibitory Neuron Differentiation in Neurodevelopmental Disorders with an NR2F1 Point Mutation","volume":"31","author":"Zhang","year":"2020","journal-title":"Cell Rep."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/s41586-021-04358-6","article-title":"Autism Genes Converge on Asynchronous Development of Shared Neuron Classes","volume":"602","author":"Paulsen","year":"2022","journal-title":"Nature"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1053\/seiz.2000.0503","article-title":"The Effects of Refractory Epilepsy on Intellectual Functioning in Children and Adults. A Longitudinal Study","volume":"10","author":"Stabell","year":"2001","journal-title":"Seizure"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/S0079-6123(02)35024-6","article-title":"MRI Studies. Do Seizures Damage the Brain?","volume":"Volume 135","author":"Duncan","year":"2002","journal-title":"Progress in Brain Research"},{"key":"ref_159","doi-asserted-by":"crossref","unstructured":"Mameni\u0161kien\u0117, R., Puteikis, K., Jasionis, A., and Jatu\u017eis, D. (2020). A Review of Accelerated Long-Term Forgetting in Epilepsy. Brain Sci., 10.","DOI":"10.3390\/brainsci10120945"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.seizure.2006.02.019","article-title":"Cognitive Problems Related to Epilepsy Syndromes, Especially Malignant Epilepsies","volume":"15","year":"2006","journal-title":"Seizure"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1535-7511.2006.00100.x","article-title":"Infantile Spasms: Little Seizures, BIG Consequences","volume":"6","author":"Shields","year":"2006","journal-title":"Epilepsy Curr."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1097\/00019052-200304000-00012","article-title":"Do Epileptic Seizures Damage the Brain?","volume":"16","author":"Sutula","year":"2003","journal-title":"Curr. Opin. Neurol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"107406","DOI":"10.1016\/j.yebeh.2020.107406","article-title":"Linking Acute Symptomatic Neonatal Seizures, Brain Injury and Outcome in Preterm Infants","volume":"112","author":"Pisani","year":"2020","journal-title":"Epilepsy Behav."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1212\/WNL.57.2.169","article-title":"More Evidence for Seizure-Induced Neuron Loss: Is Hippocampal Sclerosis Both Cause and Effect of Epilepsy?","volume":"57","author":"Sutula","year":"2001","journal-title":"Neurology"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/s11910-007-0053-z","article-title":"The Neurobiology of Epilepsy","volume":"7","author":"Scharfman","year":"2007","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1111\/ejn.13595","article-title":"Neurobiological Bases of Autism-Epilepsy Comorbidity: A Focus on Excitation\/Inhibition Imbalance","volume":"47","author":"Bozzi","year":"2018","journal-title":"Eur. J. Neurosci."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1523\/JNEUROSCI.23-02-00622.2003","article-title":"Genetic Disruption of Cortical Interneuron Development Causes Region- and GABA Cell Type-Specific Deficits, Epilepsy, and Behavioral Dysfunction","volume":"23","author":"Powell","year":"2003","journal-title":"J. Neurosci."},{"key":"ref_168","doi-asserted-by":"crossref","unstructured":"L\u00e9vesque, M., Biagini, G., and Avoli, M. (2020). Neurosteroids and Focal Epileptic Disorders. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21249391"},{"key":"ref_169","doi-asserted-by":"crossref","unstructured":"Verhoog, Q.P., Holtman, L., Aronica, E., and van Vliet, E.A. (2020). Astrocytes as Guardians of Neuronal Excitability: Mechanisms Underlying Epileptogenesis. Front. Neurol., 11.","DOI":"10.3389\/fneur.2020.591690"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"e110","DOI":"10.15190\/d.2020.7","article-title":"Epileptic Seizures","volume":"8","author":"Anwar","year":"2020","journal-title":"Discov. Craiova Rom."},{"key":"ref_171","doi-asserted-by":"crossref","unstructured":"Wu, X., Li, H., Huang, J., Xu, M., Xiao, C., and He, S. (2021). Regulation of Axon Initial Segment Diameter by COUP-TFI Fine-Tunes Action Potential Generation. Neurosci. Bull., 1\u201314.","DOI":"10.1007\/s12264-021-00792-8"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/brain\/awh388","article-title":"The Role of Periventricular Nodular Heterotopia in Epileptogenesis","volume":"128","author":"Aghakhani","year":"2005","journal-title":"Brain"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11910-020-01082-y","article-title":"Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia","volume":"20","author":"Khoo","year":"2020","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1111\/j.1528-1167.2008.01717.x","article-title":"Nodular Heterotopia: A Neuropathological Study of 24 Patients Undergoing Surgery for Drug-Resistant Epilepsy","volume":"50","author":"Meroni","year":"2009","journal-title":"Epilepsia"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.clinph.2007.09.118","article-title":"Functional Interactions in Brain Networks Underlying Epileptic Seizures in Bilateral Diffuse Periventricular Heterotopia","volume":"119","author":"Valton","year":"2008","journal-title":"Clin. Neurophysiol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"e192129","DOI":"10.1001\/jamanetworkopen.2019.2129","article-title":"Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy","volume":"2","author":"Balciuniene","year":"2019","journal-title":"JAMA Netw. Open"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/cge.12636","article-title":"Whole-Exome Sequencing Improves the Diagnosis Yield in Sporadic Infantile Spasm Syndrome","volume":"89","author":"Dimassi","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1007\/s00439-015-1553-6","article-title":"Genomic Analysis Identifies Candidate Pathogenic Variants in 9 of 18 Patients with Unexplained West Syndrome","volume":"134","author":"Kikuchi","year":"2015","journal-title":"Hum. Genet."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1007\/s10803-010-0981-3","article-title":"Motor Coordination in Autism Spectrum Disorders: A Synthesis and Meta-Analysis","volume":"40","author":"Fournier","year":"2010","journal-title":"J. Autism Dev. Disord."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"321fs1","DOI":"10.1126\/scitranslmed.aad9874","article-title":"Clinical Trials for Neurodevelopmental Disorders: At a Therapeutic Frontier","volume":"8","author":"Jeste","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1097\/WCO.0000000000000541","article-title":"Motor Development and Delay: Advances in Assessment of Motor Skills in Autism Spectrum Disorders","volume":"31","author":"Wilson","year":"2018","journal-title":"Curr. Opin. Neurol."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1542\/pir.31-7-267","article-title":"Developmental Milestones: Motor Development","volume":"31","author":"Gerber","year":"2010","journal-title":"Pediatr. Rev."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1017\/S0033291708004984","article-title":"Impaired Inhibitory Control Is Associated with Higher-Order Repetitive Behaviors in Autism Spectrum Disorders","volume":"39","author":"Mosconi","year":"2009","journal-title":"Psychol. Med."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1007\/s00415-004-0653-3","article-title":"Development and Malformations of the Human Pyramidal Tract","volume":"251","author":"Donkelaar","year":"2004","journal-title":"J. Neurol."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/0022-510X(85)90146-7","article-title":"Agyria (Lissencephaly) with Anomalous Pyramidal Crossing. Case Report and Review of Literature","volume":"69","author":"Roessmann","year":"1985","journal-title":"J. Neurol. Sci."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/BF00687014","article-title":"Congenital Absence of Pyramids and Its Significance in Genetic Diseases","volume":"65","author":"Chow","year":"1985","journal-title":"Acta Neuropathol."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/ajmg.c.30249","article-title":"Neuropathology of Holoprosencephaly","volume":"154C","author":"Marcorelles","year":"2010","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Welniarz, Q., Dusart, I., and Roze, E. (2017). The Corticospinal Tract: Evolution, Development, and Human Disorders. Dev. Neurobiol., 810\u2013829.","DOI":"10.1002\/dneu.22455"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"dev200026","DOI":"10.1242\/dev.200026","article-title":"The Topography of Corticopontine Projections Is Controlled by Postmitotic Expression of the Area-Mapping Gene Nr2f1","volume":"149","author":"Tocco","year":"2022","journal-title":"Development"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/nrn3586","article-title":"Molecular Logic of Neocortical Projection Neuron Specification, Development and Diversity","volume":"14","author":"Greig","year":"2013","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"e12556","DOI":"10.1111\/gbb.12556","article-title":"Hyperactive and Anxiolytic-like Behaviors Result from Loss of COUP-TFI\/Nr2f1 in the Mouse Cortex","volume":"18","author":"Contesse","year":"2019","journal-title":"Genes Brain Behav."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1017\/S0305000909990432","article-title":"Developing Language in a Developing Body: The Relationship between Motor Development and Language Development","volume":"37","author":"Iverson","year":"2010","journal-title":"J. Child Lang."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.braindev.2008.04.005","article-title":"An Exploration of Symmetry in Early Autism Spectrum Disorders: Analysis of Lying","volume":"31","author":"Esposito","year":"2009","journal-title":"Brain Dev."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.2522\/ptj.20100294","article-title":"Current Perspectives on Motor Functioning in Infants, Children, and Adults with Autism Spectrum Disorders","volume":"91","author":"Bhat","year":"2011","journal-title":"Phys. Ther."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1111\/j.1467-8624.2011.01595.x","article-title":"Transition from Crawling to Walking and Infants\u2019 Actions with Objects and People","volume":"82","author":"Karasik","year":"2011","journal-title":"Child Dev."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.devcel.2017.12.022","article-title":"Essential Role of Nr2f Nuclear Receptors in Patterning the Vertebrate Upper Jaw","volume":"44","author":"Barske","year":"2018","journal-title":"Dev. Cell"},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"e337","DOI":"10.1002\/wdev.337","article-title":"Evolution and Development of the Fish Jaw Skeleton","volume":"8","author":"DeLaurier","year":"2019","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.stem.2012.07.006","article-title":"Epigenomic Annotation of Enhancers Predicts Transcriptional Regulators of Human Neural Crest","volume":"11","author":"Bajpai","year":"2012","journal-title":"Cell Stem Cell"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.diff.2018.10.003","article-title":"NR2F1 Mediated Down-Regulation of Osteoblast Differentiation Was Rescued by Bone Morphogenetic Protein-2 (BMP-2) in Human MSC","volume":"104","author":"Manikandan","year":"2018","journal-title":"Differentiation"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1097\/MOP.0000000000000070","article-title":"Growth in Children with Chronic Kidney Disease: Role of Nutrition, Growth Hormone, Dialysis, and Steroids","volume":"26","author":"Ingulli","year":"2014","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_201","unstructured":"Putnick, D.L., Bell, E.M., Ghassabian, A., Robinson, S.L., Sundaram, R., and Yeung, E. (2021). Feeding Problems as an Indicator of Developmental Delay in Early Childhood. J. Pediatr., S0022347621010751."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"e602","DOI":"10.1542\/neo.9-12-e602","article-title":"Hypotonia and Poor Feeding in a Newborn","volume":"9","author":"Boyle","year":"2008","journal-title":"NeoReviews"},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1097\/01.pep.0000186506.48500.7c","article-title":"Characteristics of Hypotonia in Children: A Consensus Opinion of Pediatric Occupational and Physical Therapists","volume":"17","author":"Martin","year":"2005","journal-title":"Pediatr. Phys. Ther."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S0387-7604(03)00066-4","article-title":"The Floppy Infant: Contribution of Genetic and Metabolic Disorders","volume":"25","author":"Prasad","year":"2003","journal-title":"Brain Dev."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1101\/gad.11.15.1925","article-title":"Null Mutation of MCOUP-TFI Results in Defects in Morphogenesis of the Glossopharyngeal Ganglion, Axonal Projection, and Arborization","volume":"11","author":"Qiu","year":"1997","journal-title":"Genes Dev."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"e20210836","DOI":"10.1084\/jem.20210836","article-title":"An NR2F1-Specific Agonist Suppresses Metastasis by Inducing Cancer Cell Dormancy","volume":"219","author":"Khalil","year":"2022","journal-title":"J. Exp. Med."},{"key":"ref_207","doi-asserted-by":"crossref","unstructured":"Yoon, K., Chen, C.-C., Orr, A., Barreto, P., Tamamis, P., and Safe, S. (2019). Activation of COUP-TFI by a Novel Diindolylmethane Derivative. Cells, 8.","DOI":"10.3390\/cells8030220"},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/375377a0","article-title":"Crystal Structure of the Ligand-Binding Domain of the Human Nuclear Receptor RXR-\u03b1","volume":"375","author":"Bourguet","year":"1995","journal-title":"Nature"},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"2592","DOI":"10.1093\/emboj\/19.11.2592","article-title":"Crystal Structure of the Human RXRa Ligand-Binding Domain Bound to Its Natural Ligand: 9-Cis Retinoic Acid. 10","volume":"19","author":"Egea","year":"2000","journal-title":"EMBO J."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1124\/pr.58.4.2","article-title":"Overview of Nomenclature of Nuclear Receptors","volume":"58","author":"Germain","year":"2006","journal-title":"Pharmacol. Rev."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/nature01645","article-title":"Structure and Function of Nurr1 Identifies a Class of Ligand-Independent Nuclear Receptors","volume":"423","author":"Wang","year":"2003","journal-title":"Nature"},{"key":"ref_212","first-page":"229","article-title":"Chick Ovalbumin Upstream Promoter-Transcription Factors (COUP-TFs): Coming of Age","volume":"18","author":"Tsai","year":"1997","journal-title":"Endocr. Rev."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"41770","DOI":"10.7554\/eLife.41770","article-title":"The Novel LncRNA Lnc-NR2F1 Is pro-Neurogenic and Mutated in Human Neurodevelopmental Disorders","volume":"8","author":"Ang","year":"2019","journal-title":"eLife"},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/nmeth0410-250","article-title":"Single-Nucleotide Evolutionary Constraint Scores Highlight Disease-Causing Mutations","volume":"7","author":"Cooper","year":"2010","journal-title":"Nat. Methods"},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s13059-016-0869-4","article-title":"The Intolerance to Functional Genetic Variation of Protein Domains Predicts the Localization of Pathogenic Mutations within Genes","volume":"17","author":"Gussow","year":"2016","journal-title":"Genome Biol."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A General Framework for Estimating the Relative Pathogenicity of Human Genetic Variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1126\/science.1261877","article-title":"Effect of Predicted Protein-Truncating Genetic Variants on the Human Transcriptome","volume":"348","author":"Rivas","year":"2015","journal-title":"Science"},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-Mediated Decay Approaches the Clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.mrrev.2014.05.001","article-title":"Nonsense-Mediated Decay in Genetic Disease: Friend or Foe?","volume":"762","author":"Miller","year":"2014","journal-title":"Mutat. Res. Mutat. Res."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1038\/s41467-018-03910-9","article-title":"Medical Relevance of Protein-Truncating Variants across 337,205 Individuals in the UK Biobank Study","volume":"9","author":"DeBoever","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13073-019-0678-y","article-title":"Dissecting the Genetic Basis of Comorbid Epilepsy Phenotypes in Neurodevelopmental Disorders","volume":"11","author":"Chow","year":"2019","journal-title":"Genome Med."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.tins.2020.05.004","article-title":"Neurodevelopmental Disorders: From Genetics to Functional Pathways","volume":"43","author":"Parenti","year":"2020","journal-title":"Trends Neurosci."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1167\/iovs.04-0559","article-title":"Reduced Visual Function Associated with Infantile Spasms in Children on Vigabatrin Therapy","volume":"46","author":"Hammoudi","year":"2005","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.spen.2016.05.001","article-title":"Effect of Seizures on the Developing Brain and Cognition","volume":"23","author":"Holmes","year":"2016","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.braindev.2008.11.008","article-title":"The Long-Term Effects of Febrile Seizures on the Hippocampal Neuronal Plasticity\u2014Clinical and Experimental Evidence","volume":"31","author":"Huang","year":"2009","journal-title":"Brain Dev."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1111\/j.1528-1157.2000.tb01518.x","article-title":"Catastrophic Epilepsy in Childhood","volume":"41","author":"Shields","year":"2000","journal-title":"Epilepsia"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13073-017-0412-6","article-title":"Lessons Learned from Additional Research Analyses of Unsolved Clinical Exome Cases","volume":"9","author":"Eldomery","year":"2017","journal-title":"Genome Med."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"e1263","DOI":"10.1002\/mgg3.1263","article-title":"The Phenotype-driven Computational Analysis Yields Clinical Diagnosis for Patients with Atypical Manifestations of Known Intellectual Disability Syndromes","volume":"8","author":"Ciara","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1111\/epi.16427","article-title":"Genetic Diagnoses in Epilepsy: The Impact of Dynamic Exome Analysis in a Pediatric Cohort","volume":"61","author":"Rochtus","year":"2020","journal-title":"Epilepsia"},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1002\/humu.23896","article-title":"Dutch Genome Diagnostic Laboratories Accelerated and Improved Variant Interpretation and Increased Accuracy by Sharing Data","volume":"40","author":"Fokkema","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"628946","DOI":"10.3389\/fendo.2020.628946","article-title":"Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls","volume":"11","author":"Duncan","year":"2021","journal-title":"Front. Endocrinol."},{"key":"ref_232","doi-asserted-by":"crossref","unstructured":"Sun, H., Shen, X.-R., Fang, Z.-B., Jiang, Z.-Z., Wei, X.-J., Wang, Z.-Y., and Yu, X.-F. (2021). Next-Generation Sequencing Technologies and Neurogenetic Diseases. Life, 11.","DOI":"10.3390\/life11040361"},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1038\/gim.2017.1","article-title":"A Clinical Utility Study of Exome Sequencing versus Conventional Genetic Testing in Pediatric Neurology","volume":"19","author":"Vissers","year":"2017","journal-title":"Genet. Med."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1002\/mgg3.484","article-title":"Clinical Whole-Exome Sequencing Results Impact Medical Management","volume":"6","author":"Niguidula","year":"2018","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1001\/jamapediatrics.2017.1755","article-title":"Diagnostic Impact and Cost-Effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions","volume":"171","author":"Tan","year":"2017","journal-title":"JAMA Pediatr."},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1038\/s41593-018-0257-3","article-title":"Somatic Mosaicism and Neurodevelopmental Disease","volume":"21","author":"Walsh","year":"2018","journal-title":"Nat. Neurosci."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s13229-020-00370-1","article-title":"Autism Spectrum Disorder at the Crossroad between Genes and Environment: Contributions, Convergences, and Interactions in ASD Developmental Pathophysiology","volume":"11","author":"Cheroni","year":"2020","journal-title":"Mol. Autism"},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/aur.1938","article-title":"Understanding Environmental Contributions to Autism: Causal Concepts and the State of Science","volume":"11","author":"Schmidt","year":"2018","journal-title":"Autism Res."},{"key":"ref_239","doi-asserted-by":"crossref","unstructured":"Imbriani, G., Panico, A., Grassi, T., Idolo, A., Serio, F., Bagordo, F., De Filippis, G., De Giorgi, D., Antonucci, G., and Piscitelli, P. (2021). Early-Life Exposure to Environmental Air Pollution and Autism Spectrum Disorder: A Review of Available Evidence. Int. J. Environ. Res. Public. Health, 18.","DOI":"10.3390\/ijerph18031204"},{"key":"ref_240","doi-asserted-by":"crossref","unstructured":"Masini, E., Loi, E., Vega-Benedetti, A.F., Carta, M., Doneddu, G., Fadda, R., and Zavattari, P. (2020). An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21218290"},{"key":"ref_241","doi-asserted-by":"crossref","unstructured":"Kruse, S.W., Suino-Powell, K., Zhou, X.E., Kretschman, J.E., Reynolds, R., Vonrhein, C., Xu, Y., Wang, L., Tsai, S.Y., and Tsai, M.-J. (2008). Identification of COUP-TFII Orphan Nuclear Receptor as a Retinoic Acid\u2013Activated Receptor. PLoS Biol., 6.","DOI":"10.1371\/journal.pbio.0060227"},{"key":"ref_242","first-page":"53","article-title":"Strategies for Protecting Oligodendrocytes and Enhancing Remyelination in Multiple Sclerosis","volume":"16","author":"Rodgers","year":"2013","journal-title":"Discov. Med."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"17736","DOI":"10.1523\/JNEUROSCI.1482-11.2011","article-title":"Congenital CNS Hypomyelination in the Fig4 Null Mouse Is Rescued by Neuronal Expression of the PI(3,5)P2 Phosphatase Fig4","volume":"31","author":"Winters","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1016\/j.bbamcr.2014.04.018","article-title":"Temporal Oligodendrocyte Lineage Progression: In Vitro Models of Proliferation, Differentiation and Myelination","volume":"1843","author":"Barateiro","year":"2014","journal-title":"Biochim. Biophys. Acta BBA Mol. Cell Res."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1002\/glia.23733","article-title":"Stem Cell Derived Oligodendrocytes to Study Myelin Diseases","volume":"68","author":"Chanoumidou","year":"2020","journal-title":"Glia"},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/glia.22769","article-title":"Human Oligodendrocytes in Remyelination Research: Human Oligodendrocytes in Remyelination","volume":"63","author":"Czepiel","year":"2015","journal-title":"Glia"},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/s41592-018-0081-4","article-title":"Induction of Myelinating Oligodendrocytes in Human Cortical Spheroids","volume":"15","author":"Madhavan","year":"2018","journal-title":"Nat. Methods"},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/s41593-018-0316-9","article-title":"Differentiation and Maturation of Oligodendrocytes in Human Three-Dimensional Neural Cultures","volume":"22","author":"Marton","year":"2019","journal-title":"Nat. Neurosci."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/11\/8\/1260\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:50:10Z","timestamp":1760136610000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/11\/8\/1260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,8]]},"references-count":248,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,4]]}},"alternative-id":["cells11081260"],"URL":"https:\/\/doi.org\/10.3390\/cells11081260","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,8]]}}}