{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:35:09Z","timestamp":1790742909009,"version":"4.1.0"},"reference-count":79,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T00:00:00Z","timestamp":1516579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000871","name":"Newlife Foundation for Disabled Children","doi-asserted-by":"publisher","award":["11-12\/04"],"award-info":[{"award-number":["11-12\/04"]}],"id":[{"id":"10.13039\/501100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000921","name":"European Cooperation in Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD082373"],"award-info":[{"award-number":["R01HD082373"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","award":["R01NS036654"],"award-info":[{"award-number":["R01NS036654"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","award":["R01NS065371"],"award-info":[{"award-number":["R01NS065371"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","award":["R24NS092989"],"award-info":[{"award-number":["R24NS092989"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","award":["K08NS092898"],"award-info":[{"award-number":["K08NS092898"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["090532\/Z\/09\/Z"],"award-info":[{"award-number":["090532\/Z\/09\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,1]]},"DOI":"10.1093\/brain\/awx358","type":"journal-article","created":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T20:16:17Z","timestamp":1513714577000},"page":"698-712","source":"Crossref","is-referenced-by-count":98,"title":["De novo mutations in GRIN1 cause extensive bilateral polymicrogyria"],"prefix":"10.1093","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9778-6924","authenticated-orcid":false,"given":"Andrew E","family":"Fry","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK"},{"name":"Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A","family":"Fawcett","sequence":"additional","affiliation":[{"name":"MRC Computational Genomics Analysis and Training Programme (CGAT), MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathanel","family":"Zelnik","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel"},{"name":"Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongjie","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"},{"name":"Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda A N","family":"Thompson","sequence":"additional","affiliation":[{"name":"Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK"},{"name":"Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath BA2 7AY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilach","family":"Shemer-Meiri","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D","family":"Cushion","sequence":"additional","affiliation":[{"name":"Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hood","family":"Mugalaasi","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sims","sequence":"additional","affiliation":[{"name":"MRC Computational Genomics Analysis and Training Programme (CGAT), MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Stoodley","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seo-Kyung","family":"Chung","sequence":"additional","affiliation":[{"name":"Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark I","family":"Rees","sequence":"additional","affiliation":[{"name":"Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag V","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital Campus, Herston, Brisbane, Queensland 4029, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise A","family":"Brueton","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women\u2019s Hospital, Birmingham B15 2TG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Layet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Groupe Hospitalier du Havre, H\u00f4pital Jacques Monod, Le Havre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Giuliano","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre Hospitalier Universitaire de Nice, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P","family":"Kerr","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff CF5 5WF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehud","family":"Banne","sequence":"additional","affiliation":[{"name":"Clinical Genetics Institute, Kaplan Medical Centre, Rehovot, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Hospital, Jerusalem, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Wolfson Medical Centre, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L","family":"Helbig","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura H","family":"Kofman","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin M","family":"Knight","sequence":"additional","affiliation":[{"name":"Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"},{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha 410013, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varun","family":"Kannan","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Kusumoto","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"},{"name":"Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, 030001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon A","family":"Swanger","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil H","family":"Shaulsky","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghayda M","family":"Mirzaa","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"},{"name":"Center for Integrative Brain Research, Seattle Children\u2019s Research Institute, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison M","family":"Muir","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C","family":"Mefford","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7681-2844","authenticated-orcid":false,"given":"William B","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA"},{"name":"Center for Integrative Brain Research, Seattle Children\u2019s Research Institute, Seattle, WA 98195, USA"},{"name":"Department of Neurology, University of Washington, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda B","family":"Mackenzie","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath BA2 7AY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan G L","family":"Mullins","sequence":"additional","affiliation":[{"name":"Genome and Structural Bioinformatics Group, Institute of Life Science, Swansea University, Singleton Park, Swansea SA2 8PP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes R","family":"Lemke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[{"name":"Imagine Institute, INSERM UMR-1163, Laboratory Genetics and Embryology of Congenital Malformations, Paris Descartes University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen F","family":"Traynelis","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA"},{"name":"Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heledd F","family":"Iago","sequence":"additional","affiliation":[{"name":"Genome and Structural Bioinformatics Group, Institute of Life Science, Swansea University, Singleton Park, Swansea SA2 8PP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela T","family":"Pilz","sequence":"additional","affiliation":[{"name":"Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK"},{"name":"West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,1,22]]},"reference":[{"key":"key\n\t\t\t\t20180614072752_awx358-B1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ymgme.2014.04.001","article-title":"Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity","volume":"113","author":"Adams","year":"2014","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t20180614072752_awx358-B2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"key\n\t\t\t\t20180614072752_awx358-B3","doi-asserted-by":"crossref","first-page":"4449","DOI":"10.1523\/JNEUROSCI.19-11-04449.1999","article-title":"Glutamate acting at NMDA receptors stimulates embryonic cortical neuronal migration","volume":"19","author":"Behar","year":"1999","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B4","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/ejhg.2015.186","article-title":"Novel genetic causes for cerebral visual impairment","volume":"24","author":"Bosch","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B5","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/ng.2727","article-title":"GRIN2A mutations cause epilepsy-aphasia spectrum disorders","volume":"45","author":"Carvill","year":"2013","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B6","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/jhg.2017.19","article-title":"GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function","volume":"62","author":"Chen","year":"2017","journal-title":"J Hum Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B7","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1124\/mol.116.106781","article-title":"Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy","volume":"91","author":"Chen","year":"2017","journal-title":"Mol Pharmacol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B8","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1523\/JNEUROSCI.08-01-00185.1988","article-title":"Pharmacology of glutamate neurotoxicity in cortical cell culture: attenuation by NMDA antagonists","volume":"8","author":"Choi","year":"1988","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B9","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1212\/WNL.39.6.817","article-title":"Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia","volume":"39","author":"Dobyns","year":"1989","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180614072752_awx358-B10","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/ng.677","article-title":"Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes","volume":"42","author":"Endele","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B11","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic encephalopathies","volume":"501","author":"Epi4K Consortium","year":"2013","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180614072752_awx358-B12","doi-asserted-by":"crossref","first-page":"e0170818","DOI":"10.1371\/journal.pone.0170818","article-title":"A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia","volume":"12","author":"Gao","year":"2017","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180614072752_awx358-B13","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1002\/1531-8249(200009)48:3<336::AID-ANA8>3.0.CO;2-Q","article-title":"Neuronal migration disorder in Zellweger mice is secondary to glutamate receptor dysfunction","volume":"48","author":"Gressens","year":"2000","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B14","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ajhg.2011.02.001","article-title":"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability","volume":"88","author":"Hamdan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B15","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1124\/mol.113.085803","article-title":"Structural determinants of agonist efficacy at the glutamate binding site of N-methyl-D-aspartate receptors","volume":"84","author":"Hansen","year":"2013","journal-title":"Mol Pharmacol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B16","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.neuint.2011.11.016","article-title":"Molecular pharmacology of human NMDA receptors","volume":"61","author":"Hedegaard","year":"2012","journal-title":"Neurochem Int"},{"key":"key\n\t\t\t\t20180614072752_awx358-B17","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0165-3806(99)00019-X","article-title":"Inhibiting neuronal migration by blocking NMDA receptors in the embryonic rat cerebral cortex: a tissue culture study","volume":"114","author":"Hirai","year":"1999","journal-title":"Brain Res Dev Brain Res"},{"key":"key\n\t\t\t\t20180614072752_awx358-B18","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jphs.2016.10.002","article-title":"Human GRIN2B variants in neurodevelopmental disorders","volume":"132","author":"Hu","year":"2016","journal-title":"J Pharmacol Sci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B19","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1038\/35021059","article-title":"Cortex-restricted disruption of NMDAR1 impairs neuronal patterns in the barrel cortex","volume":"406","author":"Iwasato","year":"2000","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180614072752_awx358-B20","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1038\/ng.3703","article-title":"M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity","volume":"48","author":"Jagadeesh","year":"2016","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B21","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/ng.380","article-title":"Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria","volume":"41","author":"Jaglin","year":"2009","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B22","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jmg.2004.023952","article-title":"Genetics of the polymicrogyria syndromes","volume":"42","author":"Jansen","year":"2005","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B23","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/dmcn.12840","article-title":"The histopathology of polymicrogyria: a series of 71 brain autopsy studies","volume":"58","author":"Jansen","year":"2016","journal-title":"Dev Med Child Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B24","doi-asserted-by":"crossref","first-page":"C1295","DOI":"10.1152\/ajpcell.00253.2005","article-title":"N-methyl-D-glucamine and propidium dyes utilize different permeation pathways at rat P2X(7) receptors","volume":"289","author":"Jiang","year":"2005","journal-title":"Am J Physiol Cell Physiol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B25","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1126\/science.1251915","article-title":"Crystal structure of a heterotetrameric NMDA receptor ion channel","volume":"344","author":"Karakas","year":"2014","journal-title":"Science"},{"key":"key\n\t\t\t\t20180614072752_awx358-B26","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng.2303","article-title":"Exome sequencing and the genetic basis of complex traits","volume":"44","author":"Kiezun","year":"2012","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B27","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B28","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"key\n\t\t\t\t20180614072752_awx358-B29","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1046\/j.1460-9568.2002.02124.x","article-title":"Akt mediates the anti-apoptotic effect of NMDA but not that induced by potassium depolarization in cultured cerebellar granule cells","volume":"16","author":"Lafon-Cazal","year":"2002","journal-title":"Eur J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B30","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1046\/j.1460-9568.2003.02850.x","article-title":"Expression of NMDA receptor NR1, NR2A and NR2B subunit mRNAs during development of the human hippocampal formation","volume":"18","author":"Law","year":"2003","journal-title":"Eur J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B31","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180614072752_awx358-B32","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1212\/WNL.0000000000002740","article-title":"Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy","volume":"86","author":"Lemke","year":"2016","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180614072752_awx358-B33","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ana.24073","article-title":"GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy","volume":"75","author":"Lemke","year":"2014","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B34","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1038\/ng.2728","article-title":"Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes","volume":"45","author":"Lemke","year":"2013","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B35","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/ng.2726","article-title":"GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction","volume":"45","author":"Lesca","year":"2013","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B36","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.ajhg.2016.07.013","article-title":"GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers","volume":"99","author":"Li","year":"2016","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B37","doi-asserted-by":"crossref","first-page":"8885","DOI":"10.1523\/JNEUROSCI.2476-04.2004","article-title":"Switching of NMDA receptor 2A and 2B subunits at thalamic and cortical synapses during early postnatal development","volume":"24","author":"Liu","year":"2004","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B38","doi-asserted-by":"crossref","first-page":"15463","DOI":"10.1073\/pnas.93.26.15463","article-title":"Arrest of neuronal migration by excitatory amino acids in hamster developing brain","volume":"93","author":"Marret","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180614072752_awx358-B39","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1097\/00005072-199505000-00009","article-title":"Effect of ibotenate on brain development: an excitotoxic mouse model of microgyria and posthypoxic-like lesions","volume":"54","author":"Marret","year":"1995","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B40","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1006\/mcne.1997.0646","article-title":"Migration of neocortical neurons in the absence of functional NMDA receptors","volume":"9","author":"Messersmith","year":"1997","journal-title":"Mol Cell Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B41","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ng.2948","article-title":"De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome","volume":"46","author":"Mirzaa","year":"2014","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B42","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/B978-0-12-394287-6.00005-7","article-title":"Structural modelling pipelines in next generation sequencing projects","volume":"89","author":"Mullins","year":"2012","journal-title":"Adv Protein Chem Struct Biol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B43","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1085\/jgp.201210786","article-title":"Probing the activation sequence of NMDA receptors with lurcher mutations","volume":"140","author":"Murthy","year":"2012","journal-title":"J Gen Physiol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B44","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1006\/jmbi.2000.4042","article-title":"T-Coffee: a novel method for fast and accurate multiple sequence alignment","volume":"302","author":"Notredame","year":"2000","journal-title":"J Mol Biol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B45","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/ng.835","article-title":"Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations","volume":"43","author":"O\u2019Roak","year":"2011","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B46","doi-asserted-by":"crossref","first-page":"e1006536","DOI":"10.1371\/journal.pgen.1006536","article-title":"Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology","volume":"13","author":"Ogden","year":"2017","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B47","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1111\/epi.12987","article-title":"GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders","volume":"56","author":"Ohba","year":"2015","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180614072752_awx358-B48","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1111\/j.1750-3639.2002.tb00467.x","article-title":"Drug-induced apoptotic neurodegeneration in the developing brain","volume":"12","author":"Olney","year":"2002","journal-title":"Brain Pathol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B49","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2013a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J Comput Chem"},{"key":"key\n\t\t\t\t20180614072752_awx358-B50","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/acn3.39","article-title":"GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine","volume":"1","author":"Pierson","year":"2014","journal-title":"Ann Clin Transl Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B51","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jmedgenet-2016-104509","article-title":"GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects","volume":"54","author":"Platzer","year":"2017","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B52","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180614072752_awx358-B53","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1136\/jmedgenet-2014-102554","article-title":"Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing","volume":"51","author":"Redin","year":"2014","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B54","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/bdra.20629","article-title":"Polymicrogyria in fetal alcohol syndrome","volume":"88","author":"Reinhardt","year":"2010","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B55","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1093\/cercor\/bhh137","article-title":"Neonatal NMDA receptor blockade disturbs neuronal migration in rat somatosensory cortex in vivo","volume":"15","author":"Reiprich","year":"2005","journal-title":"Cereb Cortex"},{"key":"key\n\t\t\t\t20180614072752_awx358-B56","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng.2331","article-title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","volume":"44","author":"Riviere","year":"2012","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B57","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ejhg.2016.163","article-title":"Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy","volume":"25","author":"Rossi","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B58","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ana.410190202","article-title":"Glutamate and the pathophysiology of hypoxic\u2014ischemic brain damage","volume":"19","author":"Rothman","year":"1986","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B59","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"key\n\t\t\t\t20180614072752_awx358-B60","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1126\/science.6093256","article-title":"Blockade of N-methyl-D-aspartate receptors may protect against ischemic damage in the brain","volume":"226","author":"Simon","year":"1984","journal-title":"Science"},{"key":"key\n\t\t\t\t20180614072752_awx358-B61","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nature08624","article-title":"X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor","volume":"462","author":"Sobolevsky","year":"2009","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180614072752_awx358-B62","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/s40478-014-0080-3","article-title":"Polymicrogyria: pathology, fetal origins and mechanisms","volume":"2","author":"Squier","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"key\n\t\t\t\t20180614072752_awx358-B63","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.c.31399","article-title":"Polymicrogyria: a common and heterogeneous malformation of cortical development","volume":"166C","author":"Stutterd","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B64","doi-asserted-by":"crossref","first-page":"143","DOI":"10.4103\/1817-1745.159200","article-title":"A rare case of glycine encephalopathy unveiled by valproate therapy","volume":"10","author":"Subramanian","year":"2015","journal-title":"J Pediatr Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B65","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1016\/j.ajhg.2016.10.002","article-title":"Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains","volume":"99","author":"Swanger","year":"2016","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B66","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1177\/0883073814541476","article-title":"Increased expression of GAP43 in interneurons in a rat model of experimental polymicrogyria","volume":"30","author":"Takano","year":"2015","journal-title":"J Child Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B67","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1177\/08830738040190020501","article-title":"Radial and tangential neuronal migration disorder in ibotenate-induced cortical lesions in hamsters: immunohistochemical study of reelin, vimentin, and calretinin","volume":"19","author":"Takano","year":"2004","journal-title":"J Child Neurol"},{"key":"key\n\t\t\t\t20180614072752_awx358-B68","doi-asserted-by":"crossref","first-page":"e55","DOI":"10.1038\/tp.2011.52","article-title":"Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia","volume":"1","author":"Tarabeux","year":"2011","journal-title":"Transl Psychiatry"},{"key":"key\n\t\t\t\t20180614072752_awx358-B69","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.cellsig.2011.11.012","article-title":"A novel role for P2X7 receptor signalling in the survival of mouse embryonic stem cells","volume":"24","author":"Thompson","year":"2012","journal-title":"Cell Signal"},{"key":"key\n\t\t\t\t20180614072752_awx358-B70","doi-asserted-by":"crossref","first-page":"11919","DOI":"10.1523\/JNEUROSCI.3852-11.2012","article-title":"Adaptor protein APPL1 couples synaptic NMDA receptor with neuronal prosurvival phosphatidylinositol 3-kinase\/Akt pathway","volume":"32","author":"Wang","year":"2012","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B71","doi-asserted-by":"crossref","first-page":"10209","DOI":"10.1523\/JNEUROSCI.22-23-10209.2002","article-title":"DRPEER: a motif in the extracellular vestibule conferring high Ca2+ flux rates in NMDA receptor channels","volume":"22","author":"Watanabe","year":"2002","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20180614072752_awx358-B72","doi-asserted-by":"crossref","first-page":"5.6.1","DOI":"10.1002\/cpbi.3","article-title":"Comparative protein structure modeling using modeller","volume":"54","author":"Webb","year":"2016","journal-title":"Curr Protoc Bioinformatics"},{"key":"key\n\t\t\t\t20180614072752_awx358-B73","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1002\/jnr.21696","article-title":"Promotion of neuronal differentiation through activation of N-methyl-D-aspartate receptors transiently expressed by undifferentiated neural progenitor cells in fetal rat neocortex","volume":"86","author":"Yoneyama","year":"2008","journal-title":"J Neurosci Res"},{"key":"key\n\t\t\t\t20180614072752_awx358-B74","doi-asserted-by":"crossref","first-page":"29708","DOI":"10.1074\/jbc.M414215200","article-title":"Conserved structural and functional control of N-methyl-D-aspartate receptor gating by transmembrane domain M3","volume":"280","author":"Yuan","year":"2005","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20180614072752_awx358-B75","doi-asserted-by":"crossref","first-page":"3251","DOI":"10.1038\/ncomms4251","article-title":"Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy","volume":"5","author":"Yuan","year":"2014","journal-title":"Nat Commun"},{"key":"key\n\t\t\t\t20180614072752_awx358-B76","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.ejmg.2017.04.001","article-title":"De novo GRIN1 mutations: an emerging cause of severe early infantile encephalopathy","volume":"60","author":"Zehavi","year":"2017","journal-title":"Eur J Med Genet"},{"key":"key\n\t\t\t\t20180614072752_awx358-B77","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1177\/1073858414548724","article-title":"Extrasynaptic NMDA receptor in excitotoxicity: function revisited","volume":"21","author":"Zhou","year":"2015","journal-title":"Neuroscientist"},{"key":"key\n\t\t\t\t20180614072752_awx358-B78","doi-asserted-by":"crossref","first-page":"e560","DOI":"10.1038\/cddis.2013.82","article-title":"NMDA receptor-mediated excitotoxicity depends on the coactivation of synaptic and extrasynaptic receptors","volume":"4","author":"Zhou","year":"2013","journal-title":"Cell Death Dis"},{"key":"key\n\t\t\t\t20180614072752_awx358-B79","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/gim.2014.191","article-title":"Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios","volume":"17","author":"Zhu","year":"2015","journal-title":"Genet Med"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/141\/3\/698\/25046319\/awx358.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T22:17:50Z","timestamp":1719699470000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/141\/3\/698\/4818912"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,22]]},"references-count":79,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,1,22]]},"published-print":{"date-parts":[[2018,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awx358","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,3]]},"published":{"date-parts":[[2018,1,22]]}}}