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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>GRIN2B</italic> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects</title><author><name sortKey="Platzer, Konrad" sort="Platzer, Konrad" uniqKey="Platzer K" first="Konrad" last="Platzer">Konrad Platzer</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Yuan, Hongjie" sort="Yuan, Hongjie" uniqKey="Yuan H" first="Hongjie" last="Yuan">Hongjie Yuan</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Schutz, Hannah" sort="Schutz, Hannah" uniqKey="Schutz H" first="Hannah" last="Schütz">Hannah Schütz</name><affiliation><nlm:aff id="A4">Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</nlm:aff></affiliation></author><author><name sortKey="Winschel, Alexander" sort="Winschel, Alexander" uniqKey="Winschel A" first="Alexander" last="Winschel">Alexander Winschel</name><affiliation><nlm:aff id="A4">Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</nlm:aff></affiliation></author><author><name sortKey="Chen, Wenjuan" sort="Chen, Wenjuan" uniqKey="Chen W" first="Wenjuan" last="Chen">Wenjuan Chen</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Hu, Chun" sort="Hu, Chun" uniqKey="Hu C" first="Chun" last="Hu">Chun Hu</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Kusumoto, Hirofumi" sort="Kusumoto, Hirofumi" uniqKey="Kusumoto H" first="Hirofumi" last="Kusumoto">Hirofumi Kusumoto</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Heyne, Henrike O" sort="Heyne, Henrike O" uniqKey="Heyne H" first="Henrike O" last="Heyne">Henrike O. Heyne</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Helbig, Katherine L" sort="Helbig, Katherine L" uniqKey="Helbig K" first="Katherine L" last="Helbig">Katherine L. Helbig</name><affiliation><nlm:aff id="A5">Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA</nlm:aff></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation><nlm:aff id="A5">Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA</nlm:aff></affiliation></author><author><name sortKey="Willing, Marcia C" sort="Willing, Marcia C" uniqKey="Willing M" first="Marcia C" last="Willing">Marcia C. Willing</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA</nlm:aff></affiliation></author><author><name sortKey="Tinkle, Brad T" sort="Tinkle, Brad T" uniqKey="Tinkle B" first="Brad T" last="Tinkle">Brad T. Tinkle</name><affiliation><nlm:aff id="A7">Advocate Children’s Hospital, Park Ridge, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Adams, Darius J" sort="Adams, Darius J" uniqKey="Adams D" first="Darius J" last="Adams">Darius J. Adams</name><affiliation><nlm:aff id="A8">Genetics and Metabolism, Goryeb Children’s Hospital, Atlantic Health System, Morristown, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation><nlm:aff id="A9">INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation><nlm:aff id="A9">INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:aff id="A10">Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Frengen, Eirik" sort="Frengen, Eirik" uniqKey="Frengen E" first="Eirik" last="Frengen">Eirik Frengen</name><affiliation><nlm:aff id="A13">Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Str Mme, Petter" sort="Str Mme, Petter" uniqKey="Str Mme P" first="Petter" last="Str Mme">Petter Str Mme</name><affiliation><nlm:aff id="A14">Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name><affiliation><nlm:aff id="A15">Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Docker, Dennis" sort="Docker, Dennis" uniqKey="Docker D" first="Dennis" last="Döcker">Dennis Döcker</name><affiliation><nlm:aff id="A15">Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation><nlm:aff id="A16">Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C" last="Mefford">Heather C. Mefford</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T" last="Myers">Candace T. Myers</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Muir, Alison M" sort="Muir, Alison M" uniqKey="Muir A" first="Alison M" last="Muir">Alison M. Muir</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Lacroix, Amy" sort="Lacroix, Amy" uniqKey="Lacroix A" first="Amy" last="Lacroix">Amy Lacroix</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Sadleir, Lynette" sort="Sadleir, Lynette" uniqKey="Sadleir L" first="Lynette" last="Sadleir">Lynette Sadleir</name><affiliation><nlm:aff id="A18">Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><affiliation><nlm:aff id="A19">Department of Medicine, University of Melbourne, Austin Health and Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Brilstra, Eva" sort="Brilstra, Eva" uniqKey="Brilstra E" first="Eva" last="Brilstra">Eva Brilstra</name><affiliation><nlm:aff id="A20">Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Haelst, Mieke M" sort="Van Haelst, Mieke M" uniqKey="Van Haelst M" first="Mieke M" last="Van Haelst">Mieke M. Van Haelst</name><affiliation><nlm:aff id="A20">Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Smagt, Jasper J" sort="Van Der Smagt, Jasper J" uniqKey="Van Der Smagt J" first="Jasper J" last="Van Der Smagt">Jasper J. Van Der Smagt</name><affiliation><nlm:aff id="A20">Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bok, Levinus A" sort="Bok, Levinus A" uniqKey="Bok L" first="Levinus A" last="Bok">Levinus A. Bok</name><affiliation><nlm:aff id="A21">Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation><nlm:aff id="A22">The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Jensen, Uffe B" sort="Jensen, Uffe B" uniqKey="Jensen U" first="Uffe B" last="Jensen">Uffe B. Jensen</name><affiliation><nlm:aff id="A24">Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Millichap, John J" sort="Millichap, John J" uniqKey="Millichap J" first="John J" last="Millichap">John J. Millichap</name><affiliation><nlm:aff id="A25">Departments 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</nlm:aff></affiliation></author><author><name sortKey="Berg, Anne T" sort="Berg, Anne T" uniqKey="Berg A" first="Anne T" last="Berg">Anne T. Berg</name><affiliation><nlm:aff id="A25">Departments 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</nlm:aff></affiliation></author><author><name sortKey="Goldberg, Ethan M" sort="Goldberg, Ethan M" uniqKey="Goldberg E" first="Ethan M" last="Goldberg">Ethan M. Goldberg</name><affiliation><nlm:aff id="A26">Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="De Bie, Isabelle" sort="De Bie, Isabelle" uniqKey="De Bie I" first="Isabelle" last="De Bie">Isabelle De Bie</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Fox, Stephanie" sort="Fox, Stephanie" uniqKey="Fox S" first="Stephanie" last="Fox">Stephanie Fox</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Major, Philippe" sort="Major, Philippe" uniqKey="Major P" first="Philippe" last="Major">Philippe Major</name><affiliation><nlm:aff id="A29">Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Jones, Julie R" sort="Jones, Julie R" uniqKey="Jones J" first="Julie R" last="Jones">Julie R. Jones</name><affiliation><nlm:aff id="A30">Greenwood Genetic Center, Greenwood, South Carolina, USA</nlm:aff></affiliation></author><author><name sortKey="Zackai, Elaine H" sort="Zackai, Elaine H" uniqKey="Zackai E" first="Elaine H" last="Zackai">Elaine H. Zackai</name><affiliation><nlm:aff id="A31">Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Jamra, Rami Abou" sort="Jamra, Rami Abou" uniqKey="Jamra R" first="Rami Abou" last="Jamra">Rami Abou Jamra</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Centogene AG, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name><affiliation><nlm:aff id="A32">Centogene AG, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name><affiliation><nlm:aff id="A33">Department of Neurology, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lawson, John A" sort="Lawson, John A" uniqKey="Lawson J" first="John A" last="Lawson">John A. Lawson</name><affiliation><nlm:aff id="A35">Department of Neurology, Sydney Children’s Hospital, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><affiliation><nlm:aff id="A36">Genome.One, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Jansen, Floor E" sort="Jansen, Floor E" uniqKey="Jansen F" first="Floor E" last="Jansen">Floor E. Jansen</name><affiliation><nlm:aff id="A37">Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ranza, Emmanuelle" sort="Ranza, Emmanuelle" uniqKey="Ranza E" first="Emmanuelle" last="Ranza">Emmanuelle Ranza</name><affiliation><nlm:aff id="A38">Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Korff, Christian M" sort="Korff, Christian M" uniqKey="Korff C" first="Christian M" last="Korff">Christian M. Korff</name><affiliation><nlm:aff id="A39">Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation><nlm:aff id="A40">The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A41">Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Courage, Carolina" sort="Courage, Carolina" uniqKey="Courage C" first="Carolina" last="Courage">Carolina Courage</name><affiliation><nlm:aff id="A40">The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A41">Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Linnankivi, Tarja" sort="Linnankivi, Tarja" uniqKey="Linnankivi T" first="Tarja" last="Linnankivi">Tarja Linnankivi</name><affiliation><nlm:aff id="A42">Department of Pediatric Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Smith, Douglas R" sort="Smith, Douglas R" uniqKey="Smith D" first="Douglas R" last="Smith">Douglas R. Smith</name><affiliation><nlm:aff id="A43">Courtagen Life Sciences, Woburn, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Stanley, Christine" sort="Stanley, Christine" uniqKey="Stanley C" first="Christine" last="Stanley">Christine Stanley</name><affiliation><nlm:aff id="A43">Courtagen Life Sciences, Woburn, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Mintz, Mark" sort="Mintz, Mark" uniqKey="Mintz M" first="Mark" last="Mintz">Mark Mintz</name><affiliation><nlm:aff id="A44">The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Mcknight, Dianalee" sort="Mcknight, Dianalee" uniqKey="Mcknight D" first="Dianalee" last="Mcknight">Dianalee Mcknight</name><affiliation><nlm:aff id="A45">GeneDx, Gaithersburg, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Decker, Amy" sort="Decker, Amy" uniqKey="Decker A" first="Amy" last="Decker">Amy Decker</name><affiliation><nlm:aff id="A45">GeneDx, Gaithersburg, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Tan, Wen Hann" sort="Tan, Wen Hann" uniqKey="Tan W" first="Wen-Hann" last="Tan">Wen-Hann Tan</name><affiliation><nlm:aff id="A46">Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Tarnopolsky, Mark A" sort="Tarnopolsky, Mark A" uniqKey="Tarnopolsky M" first="Mark A" last="Tarnopolsky">Mark A. Tarnopolsky</name><affiliation><nlm:aff id="A47">Department of Pediatrics, McMaster University Children’s Hospital, Hamilton, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Brady, Lauren I" sort="Brady, Lauren I" uniqKey="Brady L" first="Lauren I" last="Brady">Lauren I. Brady</name><affiliation><nlm:aff id="A47">Department of Pediatrics, McMaster University Children’s Hospital, Hamilton, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Wolff, Markus" sort="Wolff, Markus" uniqKey="Wolff M" first="Markus" last="Wolff">Markus Wolff</name><affiliation><nlm:aff id="A48">Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tubingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Dondit, Lutz" sort="Dondit, Lutz" uniqKey="Dondit L" first="Lutz" last="Dondit">Lutz Dondit</name><affiliation><nlm:aff id="A49">Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany</nlm:aff></affiliation></author><author><name sortKey="Pedro, Helio F" sort="Pedro, Helio F" uniqKey="Pedro H" first="Helio F" last="Pedro">Helio F. Pedro</name><affiliation><nlm:aff id="A50">Hackensack University Medical Center, Hackensack, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Parisotto, Sarah E" sort="Parisotto, Sarah E" uniqKey="Parisotto S" first="Sarah E" last="Parisotto">Sarah E. Parisotto</name><affiliation><nlm:aff id="A50">Hackensack University Medical Center, Hackensack, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Jones, Kelly L" sort="Jones, Kelly L" uniqKey="Jones K" first="Kelly L" last="Jones">Kelly L. Jones</name><affiliation><nlm:aff id="A51">Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA</nlm:aff></affiliation></author><author><name sortKey="Patel, Anup D" sort="Patel, Anup D" uniqKey="Patel A" first="Anup D" last="Patel">Anup D. Patel</name><affiliation><nlm:aff id="A52">Nationwide Children’s Hospital, Columbus, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A53">The Ohio State University College of Medicine, Columbus, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Franz, David N" sort="Franz, David N" uniqKey="Franz D" first="David N" last="Franz">David N. Franz</name><affiliation><nlm:aff id="A54">Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Vanzo, Rena" sort="Vanzo, Rena" uniqKey="Vanzo R" first="Rena" last="Vanzo">Rena Vanzo</name><affiliation><nlm:aff id="A55">Lineagen, Inc., Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Marco, Elysa" sort="Marco, Elysa" uniqKey="Marco E" first="Elysa" last="Marco">Elysa Marco</name><affiliation><nlm:aff id="A56">Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Ranells, Judith D" sort="Ranells, Judith D" uniqKey="Ranells J" first="Judith D" last="Ranells">Judith D. Ranells</name><affiliation><nlm:aff id="A57">Department of Pediatrics, University of South Florida, Tampa, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Di Donato, Nataliya" sort="Di Donato, Nataliya" uniqKey="Di Donato N" first="Nataliya" last="Di Donato">Nataliya Di Donato</name><affiliation><nlm:aff id="A58">Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany</nlm:aff></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. Dobyns</name><affiliation><nlm:aff id="A59">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A60">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A61">Department of Neurology, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Laube, Bodo" sort="Laube, Bodo" uniqKey="Laube B" first="Bodo" last="Laube">Bodo Laube</name><affiliation><nlm:aff id="A4">Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</nlm:aff></affiliation></author><author><name sortKey="Traynelis, Stephen F" sort="Traynelis, Stephen F" uniqKey="Traynelis S" first="Stephen F" last="Traynelis">Stephen F. Traynelis</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Lemke, Johannes R" sort="Lemke, Johannes R" uniqKey="Lemke J" first="Johannes R" last="Lemke">Johannes R. Lemke</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28377535</idno><idno type="pmc">5656050</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050</idno><idno type="RBID">PMC:5656050</idno><idno type="doi">10.1136/jmedgenet-2016-104509</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">001F20</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F20</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>GRIN2B</italic> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects</title><author><name sortKey="Platzer, Konrad" sort="Platzer, Konrad" uniqKey="Platzer K" first="Konrad" last="Platzer">Konrad Platzer</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Yuan, Hongjie" sort="Yuan, Hongjie" uniqKey="Yuan H" first="Hongjie" last="Yuan">Hongjie Yuan</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Schutz, Hannah" sort="Schutz, Hannah" uniqKey="Schutz H" first="Hannah" last="Schütz">Hannah Schütz</name><affiliation><nlm:aff id="A4">Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</nlm:aff></affiliation></author><author><name sortKey="Winschel, Alexander" sort="Winschel, Alexander" uniqKey="Winschel A" first="Alexander" last="Winschel">Alexander Winschel</name><affiliation><nlm:aff id="A4">Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</nlm:aff></affiliation></author><author><name sortKey="Chen, Wenjuan" sort="Chen, Wenjuan" uniqKey="Chen W" first="Wenjuan" last="Chen">Wenjuan Chen</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Hu, Chun" sort="Hu, Chun" uniqKey="Hu C" first="Chun" last="Hu">Chun Hu</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Kusumoto, Hirofumi" sort="Kusumoto, Hirofumi" uniqKey="Kusumoto H" first="Hirofumi" last="Kusumoto">Hirofumi Kusumoto</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Heyne, Henrike O" sort="Heyne, Henrike O" uniqKey="Heyne H" first="Henrike O" last="Heyne">Henrike O. Heyne</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation></author><author><name sortKey="Helbig, Katherine L" sort="Helbig, Katherine L" uniqKey="Helbig K" first="Katherine L" last="Helbig">Katherine L. Helbig</name><affiliation><nlm:aff id="A5">Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA</nlm:aff></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation><nlm:aff id="A5">Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA</nlm:aff></affiliation></author><author><name sortKey="Willing, Marcia C" sort="Willing, Marcia C" uniqKey="Willing M" first="Marcia C" last="Willing">Marcia C. Willing</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA</nlm:aff></affiliation></author><author><name sortKey="Tinkle, Brad T" sort="Tinkle, Brad T" uniqKey="Tinkle B" first="Brad T" last="Tinkle">Brad T. Tinkle</name><affiliation><nlm:aff id="A7">Advocate Children’s Hospital, Park Ridge, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Adams, Darius J" sort="Adams, Darius J" uniqKey="Adams D" first="Darius J" last="Adams">Darius J. Adams</name><affiliation><nlm:aff id="A8">Genetics and Metabolism, Goryeb Children’s Hospital, Atlantic Health System, Morristown, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation><nlm:aff id="A9">INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A11">UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation><nlm:aff id="A9">INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:aff id="A10">Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Frengen, Eirik" sort="Frengen, Eirik" uniqKey="Frengen E" first="Eirik" last="Frengen">Eirik Frengen</name><affiliation><nlm:aff id="A13">Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Str Mme, Petter" sort="Str Mme, Petter" uniqKey="Str Mme P" first="Petter" last="Str Mme">Petter Str Mme</name><affiliation><nlm:aff id="A14">Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name><affiliation><nlm:aff id="A15">Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Docker, Dennis" sort="Docker, Dennis" uniqKey="Docker D" first="Dennis" last="Döcker">Dennis Döcker</name><affiliation><nlm:aff id="A15">Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation><nlm:aff id="A16">Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C" last="Mefford">Heather C. Mefford</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T" last="Myers">Candace T. Myers</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Muir, Alison M" sort="Muir, Alison M" uniqKey="Muir A" first="Alison M" last="Muir">Alison M. Muir</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Lacroix, Amy" sort="Lacroix, Amy" uniqKey="Lacroix A" first="Amy" last="Lacroix">Amy Lacroix</name><affiliation><nlm:aff id="A17">Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Sadleir, Lynette" sort="Sadleir, Lynette" uniqKey="Sadleir L" first="Lynette" last="Sadleir">Lynette Sadleir</name><affiliation><nlm:aff id="A18">Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><affiliation><nlm:aff id="A19">Department of Medicine, University of Melbourne, Austin Health and Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Brilstra, Eva" sort="Brilstra, Eva" uniqKey="Brilstra E" first="Eva" last="Brilstra">Eva Brilstra</name><affiliation><nlm:aff id="A20">Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Haelst, Mieke M" sort="Van Haelst, Mieke M" uniqKey="Van Haelst M" first="Mieke M" last="Van Haelst">Mieke M. Van Haelst</name><affiliation><nlm:aff id="A20">Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Der Smagt, Jasper J" sort="Van Der Smagt, Jasper J" uniqKey="Van Der Smagt J" first="Jasper J" last="Van Der Smagt">Jasper J. Van Der Smagt</name><affiliation><nlm:aff id="A20">Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bok, Levinus A" sort="Bok, Levinus A" uniqKey="Bok L" first="Levinus A" last="Bok">Levinus A. Bok</name><affiliation><nlm:aff id="A21">Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation><nlm:aff id="A22">The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Jensen, Uffe B" sort="Jensen, Uffe B" uniqKey="Jensen U" first="Uffe B" last="Jensen">Uffe B. Jensen</name><affiliation><nlm:aff id="A24">Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</nlm:aff></affiliation></author><author><name sortKey="Millichap, John J" sort="Millichap, John J" uniqKey="Millichap J" first="John J" last="Millichap">John J. Millichap</name><affiliation><nlm:aff id="A25">Departments 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</nlm:aff></affiliation></author><author><name sortKey="Berg, Anne T" sort="Berg, Anne T" uniqKey="Berg A" first="Anne T" last="Berg">Anne T. Berg</name><affiliation><nlm:aff id="A25">Departments 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</nlm:aff></affiliation></author><author><name sortKey="Goldberg, Ethan M" sort="Goldberg, Ethan M" uniqKey="Goldberg E" first="Ethan M" last="Goldberg">Ethan M. Goldberg</name><affiliation><nlm:aff id="A26">Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="De Bie, Isabelle" sort="De Bie, Isabelle" uniqKey="De Bie I" first="Isabelle" last="De Bie">Isabelle De Bie</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Fox, Stephanie" sort="Fox, Stephanie" uniqKey="Fox S" first="Stephanie" last="Fox">Stephanie Fox</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Major, Philippe" sort="Major, Philippe" uniqKey="Major P" first="Philippe" last="Major">Philippe Major</name><affiliation><nlm:aff id="A29">Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada</nlm:aff></affiliation></author><author><name sortKey="Jones, Julie R" sort="Jones, Julie R" uniqKey="Jones J" first="Julie R" last="Jones">Julie R. Jones</name><affiliation><nlm:aff id="A30">Greenwood Genetic Center, Greenwood, South Carolina, USA</nlm:aff></affiliation></author><author><name sortKey="Zackai, Elaine H" sort="Zackai, Elaine H" uniqKey="Zackai E" first="Elaine H" last="Zackai">Elaine H. Zackai</name><affiliation><nlm:aff id="A31">Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Jamra, Rami Abou" sort="Jamra, Rami Abou" uniqKey="Jamra R" first="Rami Abou" last="Jamra">Rami Abou Jamra</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A32">Centogene AG, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Rolfs, Arndt" sort="Rolfs, Arndt" uniqKey="Rolfs A" first="Arndt" last="Rolfs">Arndt Rolfs</name><affiliation><nlm:aff id="A32">Centogene AG, Rostock, Germany</nlm:aff></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J" last="Leventer">Richard J. Leventer</name><affiliation><nlm:aff id="A33">Department of Neurology, Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lawson, John A" sort="Lawson, John A" uniqKey="Lawson J" first="John A" last="Lawson">John A. Lawson</name><affiliation><nlm:aff id="A35">Department of Neurology, Sydney Children’s Hospital, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><affiliation><nlm:aff id="A36">Genome.One, Sydney, New South Wales, Australia</nlm:aff></affiliation></author><author><name sortKey="Jansen, Floor E" sort="Jansen, Floor E" uniqKey="Jansen F" first="Floor E" last="Jansen">Floor E. Jansen</name><affiliation><nlm:aff id="A37">Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ranza, Emmanuelle" sort="Ranza, Emmanuelle" uniqKey="Ranza E" first="Emmanuelle" last="Ranza">Emmanuelle Ranza</name><affiliation><nlm:aff id="A38">Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Korff, Christian M" sort="Korff, Christian M" uniqKey="Korff C" first="Christian M" last="Korff">Christian M. Korff</name><affiliation><nlm:aff id="A39">Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation><nlm:aff id="A40">The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A41">Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Courage, Carolina" sort="Courage, Carolina" uniqKey="Courage C" first="Carolina" last="Courage">Carolina Courage</name><affiliation><nlm:aff id="A40">The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A41">Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Linnankivi, Tarja" sort="Linnankivi, Tarja" uniqKey="Linnankivi T" first="Tarja" last="Linnankivi">Tarja Linnankivi</name><affiliation><nlm:aff id="A42">Department of Pediatric Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Smith, Douglas R" sort="Smith, Douglas R" uniqKey="Smith D" first="Douglas R" last="Smith">Douglas R. Smith</name><affiliation><nlm:aff id="A43">Courtagen Life Sciences, Woburn, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Stanley, Christine" sort="Stanley, Christine" uniqKey="Stanley C" first="Christine" last="Stanley">Christine Stanley</name><affiliation><nlm:aff id="A43">Courtagen Life Sciences, Woburn, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Mintz, Mark" sort="Mintz, Mark" uniqKey="Mintz M" first="Mark" last="Mintz">Mark Mintz</name><affiliation><nlm:aff id="A44">The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Mcknight, Dianalee" sort="Mcknight, Dianalee" uniqKey="Mcknight D" first="Dianalee" last="Mcknight">Dianalee Mcknight</name><affiliation><nlm:aff id="A45">GeneDx, Gaithersburg, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Decker, Amy" sort="Decker, Amy" uniqKey="Decker A" first="Amy" last="Decker">Amy Decker</name><affiliation><nlm:aff id="A45">GeneDx, Gaithersburg, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Tan, Wen Hann" sort="Tan, Wen Hann" uniqKey="Tan W" first="Wen-Hann" last="Tan">Wen-Hann Tan</name><affiliation><nlm:aff id="A46">Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Tarnopolsky, Mark A" sort="Tarnopolsky, Mark A" uniqKey="Tarnopolsky M" first="Mark A" last="Tarnopolsky">Mark A. Tarnopolsky</name><affiliation><nlm:aff id="A47">Department of Pediatrics, McMaster University Children’s Hospital, Hamilton, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Brady, Lauren I" sort="Brady, Lauren I" uniqKey="Brady L" first="Lauren I" last="Brady">Lauren I. Brady</name><affiliation><nlm:aff id="A47">Department of Pediatrics, McMaster University Children’s Hospital, Hamilton, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Wolff, Markus" sort="Wolff, Markus" uniqKey="Wolff M" first="Markus" last="Wolff">Markus Wolff</name><affiliation><nlm:aff id="A48">Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tubingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Dondit, Lutz" sort="Dondit, Lutz" uniqKey="Dondit L" first="Lutz" last="Dondit">Lutz Dondit</name><affiliation><nlm:aff id="A49">Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany</nlm:aff></affiliation></author><author><name sortKey="Pedro, Helio F" sort="Pedro, Helio F" uniqKey="Pedro H" first="Helio F" last="Pedro">Helio F. Pedro</name><affiliation><nlm:aff id="A50">Hackensack University Medical Center, Hackensack, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Parisotto, Sarah E" sort="Parisotto, Sarah E" uniqKey="Parisotto S" first="Sarah E" last="Parisotto">Sarah E. Parisotto</name><affiliation><nlm:aff id="A50">Hackensack University Medical Center, Hackensack, New Jersey, USA</nlm:aff></affiliation></author><author><name sortKey="Jones, Kelly L" sort="Jones, Kelly L" uniqKey="Jones K" first="Kelly L" last="Jones">Kelly L. Jones</name><affiliation><nlm:aff id="A51">Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA</nlm:aff></affiliation></author><author><name sortKey="Patel, Anup D" sort="Patel, Anup D" uniqKey="Patel A" first="Anup D" last="Patel">Anup D. Patel</name><affiliation><nlm:aff id="A52">Nationwide Children’s Hospital, Columbus, Ohio, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A53">The Ohio State University College of Medicine, Columbus, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Franz, David N" sort="Franz, David N" uniqKey="Franz D" first="David N" last="Franz">David N. Franz</name><affiliation><nlm:aff id="A54">Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Vanzo, Rena" sort="Vanzo, Rena" uniqKey="Vanzo R" first="Rena" last="Vanzo">Rena Vanzo</name><affiliation><nlm:aff id="A55">Lineagen, Inc., Salt Lake City, Utah, USA</nlm:aff></affiliation></author><author><name sortKey="Marco, Elysa" sort="Marco, Elysa" uniqKey="Marco E" first="Elysa" last="Marco">Elysa Marco</name><affiliation><nlm:aff id="A56">Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Ranells, Judith D" sort="Ranells, Judith D" uniqKey="Ranells J" first="Judith D" last="Ranells">Judith D. Ranells</name><affiliation><nlm:aff id="A57">Department of Pediatrics, University of South Florida, Tampa, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Di Donato, Nataliya" sort="Di Donato, Nataliya" uniqKey="Di Donato N" first="Nataliya" last="Di Donato">Nataliya Di Donato</name><affiliation><nlm:aff id="A58">Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany</nlm:aff></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. Dobyns</name><affiliation><nlm:aff id="A59">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A60">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A61">Department of Neurology, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Laube, Bodo" sort="Laube, Bodo" uniqKey="Laube B" first="Bodo" last="Laube">Bodo Laube</name><affiliation><nlm:aff id="A4">Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</nlm:aff></affiliation></author><author><name sortKey="Traynelis, Stephen F" sort="Traynelis, Stephen F" uniqKey="Traynelis S" first="Stephen F" last="Traynelis">Stephen F. Traynelis</name><affiliation><nlm:aff id="A2">Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA</nlm:aff></affiliation></author><author><name sortKey="Lemke, Johannes R" sort="Lemke, Johannes R" uniqKey="Lemke J" first="Johannes R" last="Lemke">Johannes R. Lemke</name><affiliation><nlm:aff id="A1">Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of <italic>GRIN2B</italic> encephalopathy and explored potential prospects of personalised medicine.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Data of 48 individuals with de novo <italic>GRIN2B</italic> 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.</p></sec><sec id="S3"><title>Results</title><p id="P3">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.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that <italic>GRIN2B</italic> encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">2985087R</journal-id><journal-id journal-id-type="pubmed-jr-id">4945</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="iso-abbrev">J. Med. Genet.</journal-id><journal-title-group><journal-title>Journal of medical genetics</journal-title></journal-title-group><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">28377535</article-id><article-id pub-id-type="pmc">5656050</article-id><article-id pub-id-type="doi">10.1136/jmedgenet-2016-104509</article-id><article-id pub-id-type="manuscript">NIHMS909914</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title><italic>GRIN2B</italic> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Platzer</surname><given-names>Konrad</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Yuan</surname><given-names>Hongjie</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Schütz</surname><given-names>Hannah</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Winschel</surname><given-names>Alexander</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Chen</surname><given-names>Wenjuan</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Chun</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Kusumoto</surname><given-names>Hirofumi</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Heyne</surname><given-names>Henrike O</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Helbig</surname><given-names>Katherine L</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Tang</surname><given-names>Sha</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Willing</surname><given-names>Marcia C</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Tinkle</surname><given-names>Brad T</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Adams</surname><given-names>Darius J</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Depienne</surname><given-names>Christel</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Keren</surname><given-names>Boris</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Mignot</surname><given-names>Cyril</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Frengen</surname><given-names>Eirik</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Strømme</surname><given-names>Petter</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Biskup</surname><given-names>Saskia</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Döcker</surname><given-names>Dennis</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Strom</surname><given-names>Tim M</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Mefford</surname><given-names>Heather C</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Myers</surname><given-names>Candace T</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Muir</surname><given-names>Alison M</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>LaCroix</surname><given-names>Amy</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Sadleir</surname><given-names>Lynette</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Scheffer</surname><given-names>Ingrid E</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Brilstra</surname><given-names>Eva</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>van Haelst</surname><given-names>Mieke M</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>van der Smagt</surname><given-names>Jasper J</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Bok</surname><given-names>Levinus A</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Møller</surname><given-names>Rikke S</given-names></name><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Uffe B</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Millichap</surname><given-names>John J</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Berg</surname><given-names>Anne T</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Goldberg</surname><given-names>Ethan M</given-names></name><xref ref-type="aff" rid="A26">26</xref><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>De Bie</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Fox</surname><given-names>Stephanie</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Major</surname><given-names>Philippe</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Julie R</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Zackai</surname><given-names>Elaine H</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Jamra</surname><given-names>Rami Abou</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Rolfs</surname><given-names>Arndt</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Leventer</surname><given-names>Richard J</given-names></name><xref ref-type="aff" rid="A33">33</xref><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Lawson</surname><given-names>John A</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Roscioli</surname><given-names>Tony</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Jansen</surname><given-names>Floor E</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Ranza</surname><given-names>Emmanuelle</given-names></name><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Korff</surname><given-names>Christian M</given-names></name><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Lehesjoki</surname><given-names>Anna-Elina</given-names></name><xref ref-type="aff" rid="A40">40</xref><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Courage</surname><given-names>Carolina</given-names></name><xref ref-type="aff" rid="A40">40</xref><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Linnankivi</surname><given-names>Tarja</given-names></name><xref ref-type="aff" rid="A42">42</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Douglas R</given-names></name><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Stanley</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Mintz</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>McKnight</surname><given-names>Dianalee</given-names></name><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Decker</surname><given-names>Amy</given-names></name><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Wen-Hann</given-names></name><xref ref-type="aff" rid="A46">46</xref></contrib><contrib contrib-type="author"><name><surname>Tarnopolsky</surname><given-names>Mark A</given-names></name><xref ref-type="aff" rid="A47">47</xref></contrib><contrib contrib-type="author"><name><surname>Brady</surname><given-names>Lauren I</given-names></name><xref ref-type="aff" rid="A47">47</xref></contrib><contrib contrib-type="author"><name><surname>Wolff</surname><given-names>Markus</given-names></name><xref ref-type="aff" rid="A48">48</xref></contrib><contrib contrib-type="author"><name><surname>Dondit</surname><given-names>Lutz</given-names></name><xref ref-type="aff" rid="A49">49</xref></contrib><contrib contrib-type="author"><name><surname>Pedro</surname><given-names>Helio F</given-names></name><xref ref-type="aff" rid="A50">50</xref></contrib><contrib contrib-type="author"><name><surname>Parisotto</surname><given-names>Sarah E</given-names></name><xref ref-type="aff" rid="A50">50</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Kelly L</given-names></name><xref ref-type="aff" rid="A51">51</xref></contrib><contrib contrib-type="author"><name><surname>Patel</surname><given-names>Anup D</given-names></name><xref ref-type="aff" rid="A52">52</xref><xref ref-type="aff" rid="A53">53</xref></contrib><contrib contrib-type="author"><name><surname>Franz</surname><given-names>David N</given-names></name><xref ref-type="aff" rid="A54">54</xref></contrib><contrib contrib-type="author"><name><surname>Vanzo</surname><given-names>Rena</given-names></name><xref ref-type="aff" rid="A55">55</xref></contrib><contrib contrib-type="author"><name><surname>Marco</surname><given-names>Elysa</given-names></name><xref ref-type="aff" rid="A56">56</xref></contrib><contrib contrib-type="author"><name><surname>Ranells</surname><given-names>Judith D</given-names></name><xref ref-type="aff" rid="A57">57</xref></contrib><contrib contrib-type="author"><name><surname>Di Donato</surname><given-names>Nataliya</given-names></name><xref ref-type="aff" rid="A58">58</xref></contrib><contrib contrib-type="author"><name><surname>Dobyns</surname><given-names>William B</given-names></name><xref ref-type="aff" rid="A59">59</xref><xref ref-type="aff" rid="A60">60</xref><xref ref-type="aff" rid="A61">61</xref></contrib><contrib contrib-type="author"><name><surname>Laube</surname><given-names>Bodo</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Traynelis</surname><given-names>Stephen F</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lemke</surname><given-names>Johannes R</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany</aff><aff id="A2"><label>2</label>Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA</aff><aff id="A3"><label>3</label>Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA</aff><aff id="A4"><label>4</label>Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany</aff><aff id="A5"><label>5</label>Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA</aff><aff id="A6"><label>6</label>Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA</aff><aff id="A7"><label>7</label>Advocate Children’s Hospital, Park Ridge, Illinois, USA</aff><aff id="A8"><label>8</label>Genetics and Metabolism, Goryeb Children’s Hospital, Atlantic Health System, Morristown, New Jersey, USA</aff><aff id="A9"><label>9</label>INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France</aff><aff id="A10"><label>10</label>Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC “Déficiences Intellectuelles et Autisme”, Hôpital de la Pitié-Salpêtrière, Paris, France</aff><aff id="A11"><label>11</label>UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France</aff><aff id="A12"><label>12</label>Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</aff><aff id="A13"><label>13</label>Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway</aff><aff id="A14"><label>14</label>Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway</aff><aff id="A15"><label>15</label>Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany</aff><aff id="A16"><label>16</label>Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany</aff><aff id="A17"><label>17</label>Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA</aff><aff id="A18"><label>18</label>Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand</aff><aff id="A19"><label>19</label>Department of Medicine, University of Melbourne, Austin Health and Royal Children’s Hospital, Melbourne, Victoria, Australia</aff><aff id="A20"><label>20</label>Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands</aff><aff id="A21"><label>21</label>Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands</aff><aff id="A22"><label>22</label>The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark</aff><aff id="A23"><label>23</label>Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark</aff><aff id="A24"><label>24</label>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark</aff><aff id="A25"><label>25</label>Departments 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</aff><aff id="A26"><label>26</label>Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><aff id="A27"><label>27</label>Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff><aff id="A28"><label>28</label>Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada</aff><aff id="A29"><label>29</label>Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada</aff><aff id="A30"><label>30</label>Greenwood Genetic Center, Greenwood, South Carolina, USA</aff><aff id="A31"><label>31</label>Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</aff><aff id="A32"><label>32</label>Centogene AG, Rostock, Germany</aff><aff id="A33"><label>33</label>Department of Neurology, Royal Children’s Hospital, Melbourne, Victoria, Australia</aff><aff id="A34"><label>34</label>Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia</aff><aff id="A35"><label>35</label>Department of Neurology, Sydney Children’s Hospital, Sydney, New South Wales, Australia</aff><aff id="A36"><label>36</label>Genome.One, Sydney, New South Wales, Australia</aff><aff id="A37"><label>37</label>Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands</aff><aff id="A38"><label>38</label>Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland</aff><aff id="A39"><label>39</label>Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland</aff><aff id="A40"><label>40</label>The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland</aff><aff id="A41"><label>41</label>Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland</aff><aff id="A42"><label>42</label>Department of Pediatric Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland</aff><aff id="A43"><label>43</label>Courtagen Life Sciences, Woburn, Massachusetts, USA</aff><aff id="A44"><label>44</label>The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA</aff><aff id="A45"><label>45</label>GeneDx, Gaithersburg, Maryland, USA</aff><aff id="A46"><label>46</label>Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA</aff><aff id="A47"><label>47</label>Department of Pediatrics, McMaster University Children’s Hospital, Hamilton, Ontario, Canada</aff><aff id="A48"><label>48</label>Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tubingen, Germany</aff><aff id="A49"><label>49</label>Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany</aff><aff id="A50"><label>50</label>Hackensack University Medical Center, Hackensack, New Jersey, USA</aff><aff id="A51"><label>51</label>Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA</aff><aff id="A52"><label>52</label>Nationwide Children’s Hospital, Columbus, Ohio, USA</aff><aff id="A53"><label>53</label>The Ohio State University College of Medicine, Columbus, Ohio, USA</aff><aff id="A54"><label>54</label>Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</aff><aff id="A55"><label>55</label>Lineagen, Inc., Salt Lake City, Utah, USA</aff><aff id="A56"><label>56</label>Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA</aff><aff id="A57"><label>57</label>Department of Pediatrics, University of South Florida, Tampa, Florida, USA</aff><aff id="A58"><label>58</label>Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany</aff><aff id="A59"><label>59</label>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA</aff><aff id="A60"><label>60</label>Department of Pediatrics, University of Washington, Seattle, Washington, USA</aff><aff id="A61"><label>61</label>Department of Neurology, University of Washington, Seattle, Washington, USA</aff><author-notes><corresp id="FN1">Correspondence to: Dr Johannes R Lemke, Institute of Human Genetics, University of Leipzig, Leipzig, Germany; <email>johannes.lemke@medizin.uni-leipzig.de</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>16</day><month>10</month><year>2017</year></pub-date><pub-date pub-type="epub"><day>04</day><month>4</month><year>2017</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2017</year></pub-date><pub-date pub-type="pmc-release"><day>25</day><month>10</month><year>2017</year></pub-date><volume>54</volume><issue>7</issue><fpage>460</fpage><lpage>470</lpage><pmc-comment>elocation-id from pubmed: 10.1136/jmedgenet-2016-104509</pmc-comment>
<abstract><sec id="S1"><title>Background</title><p id="P1">We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of <italic>GRIN2B</italic> encephalopathy and explored potential prospects of personalised medicine.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Data of 48 individuals with de novo <italic>GRIN2B</italic> 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.</p></sec><sec id="S3"><title>Results</title><p id="P3">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.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that <italic>GRIN2B</italic> encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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