{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:13:19Z","timestamp":1792804399031,"version":"4.5.0"},"reference-count":97,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2019,8,26]],"date-time":"2019-08-26T00:00:00Z","timestamp":1566777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002811","name":"Cathay General Hospital","doi-asserted-by":"publisher","award":["CGH-MRA10727"],"award-info":[{"award-number":["CGH-MRA10727"]}],"id":[{"id":"10.13039\/501100002811","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed \u201cFOXG1-related encephalopathy\u201d. There are two clinical phenotypes\/syndromes identified in FOXG1-related encephalopathy, duplications and deletions\/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinical features include microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation. In contrast, children with duplications of FOXG1 are typically normocephalic and have normal brain magnetic resonance imaging. They also have different clinical characteristics in terms of epilepsy, movement disorders, and neurodevelopment compared with children with deletions or intragenic mutations. FOXG1 is a transcriptional factor. It is expressed mainly in the telencephalon and plays a pleiotropic role in the development of the brain. It is a key player in development and territorial specification of the anterior brain. In addition, it maintains the expansion of the neural proliferating pool, and also regulates the pace of neocortical neuronogenic progression. It also facilitates cortical layer and corpus callosum formation. Furthermore, it promotes dendrite elongation and maintains neural plasticity, including dendritic arborization and spine densities in mature neurons. In this review, we summarize the clinical features, molecular genetics, and possible pathogenesis of FOXG1-related syndrome.<\/jats:p>","DOI":"10.3390\/ijms20174176","type":"journal-article","created":{"date-parts":[[2019,8,26]],"date-time":"2019-08-26T10:54:53Z","timestamp":1566816893000},"page":"4176","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":88,"title":["FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms"],"prefix":"10.3390","volume":"20","author":[{"given":"Lee-Chin","family":"Wong","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Cathay General Hospital, Taipei 106, Taiwan"},{"name":"Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shekhar","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cathay General Hospital, Taipei 106, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Pei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital YunLin Branch, YunLin 640, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Jui","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei City Hospital YangMing Branch, Taipei 111, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su-Ching","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cathay General Hospital, Taipei 106, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang-Tso","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, National Taiwan University Children\u2019s Hospital, Taipei 100, Taiwan"},{"name":"Department of Pediatrics, National Taiwan University College of Medicine, Taipei 100, Taiwan"},{"name":"Graduate Institute of Brain and Mind Sciences, National Taiwan University College of Medicine, Taipei 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,8,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: Revised diagnostic criteria and nomenclature","volume":"68","author":"Jeffrey","year":"2010","journal-title":"Ann. 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