{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T19:21:53Z","timestamp":1779909713839,"version":"3.53.1"},"reference-count":62,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,10,27]],"date-time":"2024-10-27T00:00:00Z","timestamp":1729987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["FWO 1805321\u2009N"],"award-info":[{"award-number":["FWO 1805321\u2009N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007660","name":"Universiteit Antwerpen","doi-asserted-by":"publisher","award":["BOF \u2010 47075\u2010 DOCPRO_2022"],"award-info":[{"award-number":["BOF \u2010 47075\u2010 DOCPRO_2022"]}],"id":[{"id":"10.13039\/501100007660","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The rate of discovery and increased understanding of genetic causes for neurodevelopmental disorders has peaked over the past decade. It is well recognised that some genes show marked variability in neuroradiological phenotypes, and inversely, some radiological phenotypes are associated with several different genetic conditions. However, some readily recognisable brain magnetic resonance imaging (MRI) patterns, especially in the context of corresponding associated clinical findings, should prompt consideration of a pathogenic variant in a specific gene or gene pathway. As these conditions can often prove challenging to diagnose, a clinical suspicion of a specific disorder may be invaluable to guide and interpret genetic testing. This review focuses on five neurogenetic syndromes with recognisable brain findings that radiologists, paediatric neurologists, geneticists, and other specialists involved in neurodevelopmental disorders should be able to recognise in order to pinpoint the gene or gene groups involved and delve into their molecular mechanisms. The comprehensively reviewed conditions include\n                    <jats:italic>DDX3X<\/jats:italic>\n                    \u2010related neurodevelopmental disorder, Van Maldergem syndrome, NMDAR\u2010related disorders,\n                    <jats:italic>EML1<\/jats:italic>\n                    \u2010associated disorder and\n                    <jats:italic>ARFGEF2<\/jats:italic>\n                    \u2010related periventricular nodular heterotopia with microcephaly.\n                  <\/jats:p>","DOI":"10.1111\/cge.14637","type":"journal-article","created":{"date-parts":[[2024,10,27]],"date-time":"2024-10-27T23:59:17Z","timestamp":1730073557000},"page":"13-22","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Recognisable Neuroradiological Findings in Five Neurogenetic Disorders"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5762-5260","authenticated-orcid":false,"given":"Jessica","family":"Rosenblum","sequence":"first","affiliation":[{"name":"Center of Clinical Genetics Antwerp University Hospital, University of Antwerp  Edegem Belgium"},{"name":"Translational Neurosciences University of Antwerp  Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Meuwissen","sequence":"additional","affiliation":[{"name":"Center of Clinical Genetics Antwerp University Hospital, University of Antwerp  Edegem Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Translational Neurosciences University of Antwerp  Edegem Belgium"},{"name":"Department of Pediatric Neurology Antwerp University Hospital, University of Antwerp  Edegem 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