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Genotype-phenotype correlations
Original research
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Authors

  • Stefanie Brock Department of Pathology, Universitair Ziekenhuis Brussel, Brussels, Belgium Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium PubMed articlesGoogle scholar articles
  • Annie Laquerriere Normandy Centre for Genomic and Personalized Medicine, INSERM U1245, Rouen, France Department of Pathology, Rouen University Hospital, Rouen, France PubMed articlesGoogle scholar articles
  • Florent Marguet Normandy Centre for Genomic and Personalized Medicine, INSERM U1245, Rouen, France Department of Pathology, Rouen University Hospital, Rouen, France PubMed articlesGoogle scholar articles
  • Scott J Myers Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA PubMed articlesGoogle scholar articles
  • Yuan Hongjie Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA PubMed articlesGoogle scholar articles
  • Diana Baralle Human Development and Health, University of Southampton, Southampton, UK PubMed articlesGoogle scholar articles
  • Tim Vanderhasselt Department of Radiology, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Katrien Stouffs Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Kathelijn Keymolen Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Sukhan Kim Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA PubMed articlesGoogle scholar articles
  • James Allen Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA PubMed articlesGoogle scholar articles
  • Gil Shaulsky Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA PubMed articlesGoogle scholar articles
  • Jamel Chelly Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, Strasbourg, France Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Pascale Marcorelle Service d'Anatomie Pathologique, Centre Hospitalier Universitaire de Brest; Laboratoire Neurosciences de Brest, Université de Brest, Brest, France PubMed articlesGoogle scholar articles
  • Jacqueline Aziza Department of Pathology, University Institute for Cancer, Toulouse, France PubMed articlesGoogle scholar articles
  • Laurent Villard Inserm, Marseille Medical Genetics Center, Aix-Marseille University, Marseille, France Department of Medical Genetics, La Timone Children's Hospital, Marseille, France PubMed articlesGoogle scholar articles
  • Elise Sacaze Department of Pediatrics, Centre Hospitalier Universitaire de Brest, Brest, France PubMed articlesGoogle scholar articles
  • Marie C Y de Wit Department of Pediatric Neurology, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Martina Wilke Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Grazia Maria Simonetta Mancini Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Ute Hehr Center for Human Genetics, Universitätsklinikum Regensburg, Regensburg, Germany PubMed articlesGoogle scholar articles
  • Derek Lim West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, University of Southampton, Southampton, UK PubMed articlesGoogle scholar articles
  • Sahar Mansour SW Thames Regional Genetics Service, University of London St George's Molecular and Clinical Sciences Research Institute, London, UK PubMed articlesGoogle scholar articles
  • Stephen F Traynelis Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA PubMed articlesGoogle scholar articles
  • Claire Beneteau Département de Génétique, Hôpital Universitaire de Nantes, Nantes, France UF de Fœtopathologie et Génétique, CHU Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Marie Denis-Musquer UF de Fœtopathologie et Génétique, CHU Nantes, Nantes, France Department of Pathology, CHU Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Anna C Jansen Pediatric Neurology Unit, Universitair Ziekenhuis Antwerpen, Antwerp, Belgium PubMed articlesGoogle scholar articles
  • Andrew E Fry Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK PubMed articlesGoogle scholar articles
  • Nadia Bahi-Buisson Pediatric Neurology, Necker Enfants Malades Hospital, Université de Paris, Paris, France Embryology and Genetics of Congenital Malformations, Institut Imagine (INSERM UMR-1163), Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Stefanie Brock, Department of Pathology, Universitair Ziekenhuis Brussel, Brussel, Belgium; Stefanie.Brock{at}vub.be
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Citation

Brock S, Laquerriere A, Marguet F, et al
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Journal of Medical Genetics 2023;60:183-192.

Publication history

  • Received May 13, 2021
  • Accepted March 16, 2022
  • First published April 7, 2022.
Online issue publication 
June 15, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.