{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:19:34Z","timestamp":1790619574635,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T00:00:00Z","timestamp":1573430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>EML1<\/jats:italic> encodes the protein Echinoderm microtubule\u2010associated protein\u2010like 1 or EMAP\u20101 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial <jats:italic>EML1<\/jats:italic> deletion and a homozygous missense variant c.760G&gt;A, p.(Val254Met), respectively. From review of the clinical and imaging data of eight individuals from five families with biallelic <jats:italic>EML1<\/jats:italic> variants, a very consistent imaging phenotype emerges. The clinical syndrome is characterized by mainly neurological features including severe developmental delay, drug\u2010resistant seizures and visual impairment. On brain imaging there is megalencephaly with a characteristic ribbon\u2010like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria\u2010like cortical malformation. Several of its features can be recognized on prenatal imaging especially the abnormaly formed lateral ventricles, hydrocephalus (in half of the cases) and suspicion of a neuronal migration disorder. In conclusion, biallelic <jats:italic>EML1<\/jats:italic> disease\u2010causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment.<\/jats:p>","DOI":"10.1002\/ajmg.c.31751","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T18:06:48Z","timestamp":1573495608000},"page":"627-637","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["<i>EML1\u2010<\/i>associated brain overgrowth syndrome with ribbon\u2010like heterotopia"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7146-617X","authenticated-orcid":false,"given":"Renske","family":"Oegema","sequence":"first","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"McGillivray","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Leventer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics  Melbourne Australia"},{"name":"Department of Pediatrics University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Ga\u00eblle","family":"Le Moing","sequence":"additional","affiliation":[{"name":"Department of Child Neurology CHU Amiens  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi\u2010Buisson","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes Sorbonne Paris Cit\u00e9s  Paris France"},{"name":"Embryology and genetics of congenital malformations Institut Imagine\u2010INSERM  Paris France"},{"name":"Pediatric Neurology Necker Enfants Malades Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Barnicoat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Royal Children's Hospital, Department of Pediatrics University of Melbourne, Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Royal Children's Hospital, Department of Radiology University of Melbourne, Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Francis","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Francis","sequence":"additional","affiliation":[{"name":"INSERM U 1270  Paris France"},{"name":"Sorbonne Universit\u00e9, UMR\u2010S 1270  Paris France"},{"name":"Institut du Fer \u00e0 Moulin  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1211-9979","authenticated-orcid":false,"given":"Grazia M. 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