Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/17983
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dc.contributor.authorPlatzer, Konrad-
dc.contributor.authorYuan, Hongjie-
dc.contributor.authorSchütz, Hannah-
dc.contributor.authorWinschel, Alexander-
dc.contributor.authorChen, Wenjuan-
dc.contributor.authorHu, Chun-
dc.contributor.authorKusumoto, Hirofumi-
dc.contributor.authorHeyne, Henrike O-
dc.contributor.authorHelbig, Katherine L-
dc.contributor.authorTang, Sha-
dc.contributor.authorWilling, Marcia C-
dc.contributor.authorTinkle, Brad T-
dc.contributor.authorAdams, Darius J-
dc.contributor.authorDepienne, Christel-
dc.contributor.authorKeren, Boris-
dc.contributor.authorMignot, Cyril-
dc.contributor.authorFrengen, Eirik-
dc.contributor.authorStrømme, Petter-
dc.contributor.authorBiskup, Saskia-
dc.contributor.authorDöcker, Dennis-
dc.contributor.authorStrom, Tim M-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorMyers, Candace T-
dc.contributor.authorMuir, Alison M-
dc.contributor.authorLaCroix, Amy-
dc.contributor.authorSadleir, Lynette-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBrilstra, Eva-
dc.contributor.authorvan Haelst, Mieke M-
dc.contributor.authorvan der Smagt, Jasper J-
dc.contributor.authorBok, Levinus A-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorJensen, Uffe B-
dc.contributor.authorMillichap, John J-
dc.contributor.authorBerg, Anne T-
dc.contributor.authorGoldberg, Ethan M-
dc.contributor.authorDe Bie, Isabelle-
dc.contributor.authorFox, Stephanie-
dc.contributor.authorMajor, Philippe-
dc.contributor.authorJones, Julie R-
dc.contributor.authorZackai, Elaine H-
dc.contributor.authorAbou Jamra, Rami-
dc.contributor.authorRolfs, Arndt-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorLawson, John A-
dc.contributor.authorRoscioli, Tony-
dc.contributor.authorJansen, Floor E-
dc.contributor.authorRanza, Emmanuelle-
dc.contributor.authorKorff, Christian M-
dc.contributor.authorLehesjoki, Anna-Elina-
dc.contributor.authorCourage, Carolina-
dc.contributor.authorLinnankivi, Tarja-
dc.contributor.authorSmith, Douglas R-
dc.contributor.authorStanley, Christine-
dc.contributor.authorMintz, Mark-
dc.contributor.authorMcKnight, Dianalee-
dc.contributor.authorDecker, Amy-
dc.contributor.authorTan, Wen-Hann-
dc.contributor.authorTarnopolsky, Mark A-
dc.contributor.authorBrady, Lauren I-
dc.contributor.authorWolff, Markus-
dc.contributor.authorDondit, Lutz-
dc.contributor.authorPedro, Helio F-
dc.contributor.authorParisotto, Sarah E-
dc.contributor.authorJones, Kelly L-
dc.contributor.authorPatel, Anup D-
dc.contributor.authorFranz, David N-
dc.contributor.authorVanzo, Rena-
dc.contributor.authorMarco, Elysa-
dc.contributor.authorRanells, Judith D-
dc.contributor.authorDi Donato, Nataliya-
dc.contributor.authorDobyns, William B-
dc.contributor.authorLaube, Bodo-
dc.contributor.authorTraynelis, Stephen F-
dc.contributor.authorLemke, Johannes R-
dc.date2017-04-04-
dc.date.accessioned2018-07-02T03:58:26Z-
dc.date.available2018-07-02T03:58:26Z-
dc.date.issued2017-07-
dc.identifier.citationJournal of medical genetics 2017; 54(7): 460-470-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/17983-
dc.description.abstractWe aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. Overall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients presented with a consistent malformation of cortical development (MCD) intermediate between tubulinopathies and polymicrogyria. Missense variants cluster in transmembrane segments and ligand-binding sites. Functional consequences of variants were diverse, revealing various potential gain-of-function and loss-of-function mechanisms and a retained sensitivity to the use-dependent blocker memantine. However, an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated. In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.-
dc.language.isoeng-
dc.subjectchannelopathy-
dc.subjectclustering of missense variants-
dc.subjectepileptic encephalopathy-
dc.subjectpathogenic GRIN2B mutations-
dc.subjectprecision medicine-
dc.titleGRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.-
dc.typeJournal Article-
dc.identifier.journaltitleJournal of medical genetics-
dc.identifier.affiliationUMR 7104/INSERM U964/Université de Strasbourg, Illkirch, Franceen
dc.identifier.affiliationGreenwood Genetic Center, Greenwood, South Carolina, USAen
dc.identifier.affiliationCentogene AG, Rostock, Germanyen
dc.identifier.affiliationDepartment of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canadaen
dc.identifier.affiliationLaboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, Franceen
dc.identifier.affiliationCourtagen Life Sciences, Woburn, Massachusetts, USAen
dc.identifier.affiliationThe Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USAen
dc.identifier.affiliationDepartment of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA-
dc.identifier.affiliationCenter for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA-
dc.identifier.affiliationDepartment of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany-
dc.identifier.affiliationDivision of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA-
dc.identifier.affiliationDepartment of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA-
dc.identifier.affiliationAdvocate Children's Hospital, Park Ridge, Illinois, USA-
dc.identifier.affiliationGenetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA-
dc.identifier.affiliationINSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France-
dc.identifier.affiliationDépartement de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC "Déficiences Intellectuelles et Autisme", Hôpital de la Pitié-Salpêtrière, Paris, France-
dc.identifier.affiliationDepartment of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway-
dc.identifier.affiliationDepartment of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway-
dc.identifier.affiliationPractice for Human Genetics and CeGaT GmbH, Tübingen, Germany-
dc.identifier.affiliationInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany-
dc.identifier.affiliationDepartment of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationDepartment of Medicine, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia-
dc.identifier.affiliationDepartment of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands-
dc.identifier.affiliationDepartment of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands-
dc.identifier.affiliationThe Danish Epilepsy Centre Filadelfia, Dianalund, Denmark-
dc.identifier.affiliationInstitute for Regional Health Services, University of Southern Denmark, Odense, Denmark-
dc.identifier.affiliationDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark-
dc.identifier.affiliationDepartments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA-
dc.identifier.affiliationDivision of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA-
dc.identifier.affiliationDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA-
dc.identifier.affiliationDepartment of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada-
dc.identifier.affiliationDepartment of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA-
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia-
dc.identifier.affiliationMurdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia-
dc.identifier.affiliationDepartment of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia-
dc.identifier.affiliationGenome.One, Sydney, New South Wales, Australia-
dc.identifier.affiliationDepartment of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands-
dc.identifier.affiliationService of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland-
dc.identifier.affiliationDepartment of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland-
dc.identifier.affiliationThe Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland-
dc.identifier.affiliationResearch Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland-
dc.identifier.affiliationDepartment of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland-
dc.identifier.affiliationGeneDx, Gaithersburg, Maryland, USA-
dc.identifier.affiliationDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA-
dc.identifier.affiliationDepartment of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada-
dc.identifier.affiliationDepartment of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tubingen, Germany-
dc.identifier.affiliationDepartment of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany-
dc.identifier.affiliationHackensack University Medical Center, Hackensack, New Jersey, USA-
dc.identifier.affiliationDepartment of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA-
dc.identifier.affiliationNationwide Children's Hospital, Columbus, Ohio, USA-
dc.identifier.affiliationDepartment of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA-
dc.identifier.affiliationLineagen, Inc., Salt Lake City, Utah, USA-
dc.identifier.affiliationDepartment of Pediatrics, University of South Florida, Tampa, Florida, USA-
dc.identifier.affiliationInstitute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany-
dc.identifier.affiliationCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA-
dc.identifier.affiliationInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany-
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationDepartment of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA-
dc.identifier.affiliationThe Ohio State University College of Medicine, Columbus, Ohio, USA-
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, Washington, USA-
dc.identifier.affiliationDepartment of Neurology, University of Washington, Seattle, Washington, USA-
dc.identifier.doi10.1136/jmedgenet-2016-104509-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.pubmedid28377535-
dc.type.austinJournal Article-
local.name.researcherScheffer, Ingrid E
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
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