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EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia
Authors:Renske Oegema  George McGillivray  Richard Leventer  Anne‐Gaëlle Le Moing  Nadia Bahi‐Buisson  Angela Barnicoat  Simone Mandelstam  David Francis  Fiona Francis  Grazia M. S. Mancini  Sanne Savelberg  Gijs van Haaften  Kshitij Mankad  Maarten H. Lequin
Affiliation:1.

https://orcid.org/0000-0002-7146-617X;2. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;3. Renske Oegema, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.;4. Maarten H. Lequin, Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.;5. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia;6. Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and, University of Melbourne Department of Pediatrics, Melbourne, Australia;7. Department of Pediatrics, University of Melbourne, Melbourne, Australia;8. Department of Child Neurology, CHU Amiens, Paris, France;9. Université Paris Descartes, Sorbonne Paris Cités, Paris, France;10. Embryology and genetics of congenital malformations, Institut Imagine‐INSERM, Paris, France;11. Pediatric Neurology, Necker Enfants Malades Hospital, Assistance Publique‐H?pitaux de Paris, Paris, France;12. Department of Clinical Genetics, Great Ormond Street Hospital, London, UK;13. Royal Children's Hospital, Department of Pediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia;14. Royal Children's Hospital, Department of Radiology, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia;15. INSERM U 1270, Paris, France;16. Sorbonne Université, UMR‐S 1270, Paris, France;17. Institut du Fer à Moulin, Paris, France;18. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands;19. Department of Radiology, Great Ormond Street Hospital, London, UK;20. Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands

Abstract:
Keywords:   EML1  gray matter heterotopia  hydrocephalus  megalencephaly  polymicrogyria  ribbon‐like heterotopia
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