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Advanced Neurology                                               NMDA receptors in neuropsychiatric diseases



                JAMA Psychiatry, 71: 681–688.                      and hyperkinetic and stereotyped movement disorders.
                                                                   Epilepsia, 56: 841–848.
                https://doi.org/1001/jamapsychiatry.2014.62
                                                                   https://doi.org/1111/epi.12987
            302.  McGhee LL, Maani CV, Garza TH,  et al., 2008, The
                correlation  between  ketamine  and  posttraumatic  stress   313.  Pierson TM, Yuan H, Marsh ED,  et al., 2014, GRIN2A
                disorder in burned service members. J Trauma, 64: S195–8;   mutation and early-onset epileptic encephalopathy:
                discussion S197–8.                                 Personalized therapy with memantine.  Ann Clin Transl
                                                                   Neurol, 1: 190-198.
                https://doi.org/1097/TA.0b013e318160ba1d
                                                                   https://doi.org/1002/acn3.39
            303.  Zhang LM, Zhou WW, Ji YJ, et al., 2015, Anxiolytic effects of
                ketamine in animal models of posttraumatic stress disorder.   314.  Carvill  GL,  Regan  BM,  Yendle  SC,  et al.,  2013,  GRIN2A
                Psychopharmacology, 232: 663–672.                  mutations cause epilepsy-aphasia spectrum disorders. Nat
                                                                   Genet, 45: 1073–1076.
                https://doi.org/1007/s00213-014-3697-9
                                                                   https://doi.org/1038/ng.2727
            304.  Zimmerman JM, Maren S, 2010, NMDA receptor
                antagonism in the basolateral but not central amygdala   315.  Lemke JR, Lal D, Reinthaler EM,  et al., 2013, Mutations
                blocks the extinction of Pavlovian fear conditioning in rats.   in  GRIN2A  cause  idiopathic  focal  epilepsy  with  rolandic
                Eur J Neurosci, 31: 1664–1670.                     spikes. Nat Genet, 45: 1067–1072.
                https://doi.org/1111/j.1460-9568.2010.07223.x      https://doi.org/1038/ng.2728
            305.  Liu JL, Li M, Dang XR,  et al., 2009, A NMDA receptor   316.  Lesca G, Rudolf G, Bruneau N,  et al., 2013, GRIN2A
                antagonist, MK-801 impairs consolidating extinction of   mutations in acquired epileptic aphasia and related
                auditory conditioned fear responses in a Pavlovian model.   childhood focal epilepsies and encephalopathies with speech
                PLoS One, 4: e7548.                                and language dysfunction. Nat Genet, 45: 1061–1066.
                https://doi.org/1371/journal.pone.0007548          https://doi.org/1038/ng.2726
            306.  Fry AE, Fawcett KA, Zelnik N, et al., 2018, De novo mutations   317.  Xu XX, Liu XR, Fan CY, et al., 2018, Functional investigation
                in GRIN1 cause extensive bilateral polymicrogyria. Brain,   of a GRIN2A variant associated with rolandic epilepsy.
                141: 698–712.                                      Neurosci Bull, 34: 237–246.
                https://doi.org/1093/brain/awx358                  https://doi.org/1007/s12264-017-0182-6
            307.  Yuan H, Low CM, Moody OA, et al., 2015, Ionotropic GABA   318.  Yuan  H,  Tankovic  A,  Burger  PB,  et al.,  2014,  Functional
                and glutamate receptor mutations and human neurologic   analysis of a de novo GRIN2A missense mutation associated
                diseases. Mol Pharmacol, 88: 203–217.              with early-onset epileptic encephalopathy.  Nat Commun,
                                                                   5: 3251.
                https://doi.org/1124/mol.115.097998
                                                                   https://doi.org/1038/ncomms4251
            308.  Hamdan FF, Gauthier J, Araki Y,  et al., 2011, Excess of
                de  novo deleterious mutations in genes associated with   319.  Chen W,  et al., 2017, Functional evaluation of a  de novo
                glutamatergic  systems in  nonsyndromic  intellectual   GRIN2A mutation identified in a patient with profound
                disability. Am J Hum Genet, 88: 306–316.           global developmental delay and refractory epilepsy.  Mol
                                                                   Pharmacol, 91: 317–330.
                https://doi.org/1016/j.ajhg.2011.02.001
                                                                   https://doi.org/1124/mol.116.106781
            309.  Lemke JR, Geider K, Helbig KL, et al., 2016, Delineating
                the GRIN1 phenotypic spectrum: A distinct genetic NMDA   320.  Endele S, Rosenberger G, Geider K, et al., 2010, Mutations
                receptor encephalopathy. Neurology, 86: 2171–2178.   in GRIN2A and GRIN2B encoding regulatory subunits
                                                                   of NMDA receptors cause variable neurodevelopmental
                https://doi.org/1212/WNL.0000000000002740
                                                                   phenotypes. Nat Genet, 42: 1021–1026.
            310.  Chen W, Shieh C, Swanger SA, et al., 2017, GRIN1 mutation      https://doi.org/1038/ng.677
                associated with intellectual disability alters NMDA receptor
                trafficking and function. J Hum Genet, 62: 589–597.   321.  Hansen KB, Yi F,  Perszyk  RE,  et al., 2018,  Structure,
                                                                   function, and allosteric modulation of NMDA receptors.
                https://doi.org/1038/jhg.2017.19
                                                                   J Gen Physiol, 150: 1081–1105.
            311.  Xu XX, Luo JH, 2018, Mutations of N-methyl-D-aspartate      https://doi.org/1085/jgp.201812032
                receptor subunits in epilepsy. Neurosci Bull, 34: 549–565.
                                                               322.  Wollmuth  LP, Kuner T, Sakmann B,  1998, Adjacent
                https://doi.org/1007/s12264-017-0191-5
                                                                   asparagines in the NR2-subunit of the NMDA receptor
            312.  Ohba C, Shiina M, Tohyama J, et al., 2015, GRIN1 mutations   channel control the voltage-dependent block by extracellular
                cause encephalopathy with infantile-onset epilepsy,   Mg . J Physiol, 506(Pt 1): 13–32.
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            Volume 1 Issue 2 (2022)                         29                      https://doi.org/10.36922/an.v1i2.148
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