Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report

[1] Hansen KB(2017)NMDA receptors in the central nervous system Methods Mol Biol 1677 1-80

[2] Yi F(2013)NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease Nat Rev Neurosci 14 383-400

[3] Perszyk RE(2014)Crystal structure of a heterotetrameric NMDA receptor ion channel Science 344 992-7

[4] Menniti FS(2019)Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy Brain 142 3009-27

[5] Traynelis SF(2018)GRIN2D variants in three cases of developmental and epileptic encephalopathy Clin Genet 94 538-47

[6] Paoletti P(2016)GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers Am J Hum Genet 99 802-16

[7] Bellone C(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-24

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[9] Karakas E(undefined)undefined undefined undefined undefined-undefined

[10] Furukawa H(undefined)undefined undefined undefined undefined-undefined

[1] Hansen KB(2017)NMDA receptors in the central nervous system Methods Mol Biol 1677 1-80

[2] Yi F(2013)NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease Nat Rev Neurosci 14 383-400

[3] Perszyk RE(2014)Crystal structure of a heterotetrameric NMDA receptor ion channel Science 344 992-7

[4] Menniti FS(2019)Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy Brain 142 3009-27

[5] Traynelis SF(2018)GRIN2D variants in three cases of developmental and epileptic encephalopathy Clin Genet 94 538-47

[6] Paoletti P(2016)GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers Am J Hum Genet 99 802-16

[7] Bellone C(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-24

[8] Zhou Q(undefined)undefined undefined undefined undefined-undefined

[9] Karakas E(undefined)undefined undefined undefined undefined-undefined

[10] Furukawa H(undefined)undefined undefined undefined undefined-undefined