Publications:

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GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms.

Frontiers In Synaptic Neuroscience

Sabo, Shasta L SL; Lahr, Jessica M JM; Offer, Madelyn M; Weekes, Anika LA A; Sceniak, Michael P MP

Publication Date: 2022

Variant appearance in text: GluN2B: N615I

PubMed Link: 36704660

Variant Present in the following documents:

• Main text
• fnsyn-14-1090865.pdf

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: GRIN2B: N615I

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.

Genes

Shah, Abid Ali AA; Amjad, Marryam M; Hassan, Jawad-Ul JU; Ullah, Asmat A; Mahmood, Arif A; Deng, Huiyin H; Ali, Yasir Y; Gul, Fouzia F; Xia, Kun K

Publication Date: 2022-07-26

Variant appearance in text: GluN2B: Asn615Ile; rs672601377

PubMed Link: 35893069

Variant Present in the following documents:

• Main text
• genes-13-01332.pdf

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Roles of N-Methyl-D-Aspartate Receptors (NMDARs) in Epilepsy.

Frontiers In Molecular Neuroscience

Chen, Shuang S; Xu, Da D; Fan, Liu L; Fang, Zhi Z; Wang, Xiufeng X; Li, Man M

Publication Date: 2021

Variant appearance in text: GRIN2B: Asn615Ile

PubMed Link: 35069111

Variant Present in the following documents:

• Main text
• fnmol-14-797253.pdf

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Three-dimensional missense tolerance ratio analysis.

Genome Research

Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF

Publication Date: 2021-08

Variant appearance in text: GRIN2B: N615I

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Elife

Kellner, Shai S; Abbasi, Abeer A; Carmi, Ido I; Heinrich, Ronit R; Garin-Shkolnik, Tali T; Hershkovitz, Tova T; Giladi, Moshe M; Haitin, Yoni Y; Johannesen, Katrine M KM; Steensbjerre Møller, Rikke R; Berlin, Shai S

Publication Date: 2021-07-02

Variant appearance in text: GRIN2B: 1844A>T; N615I; rs672601377

PubMed Link: 34212862

Variant Present in the following documents:

• Main text
• elife-67555-supp2.xlsx, sheet 1
• elife-67555.pdf

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Voltage-independent GluN2A-type NMDA receptor Ca2+ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice.

Communications Biology

Bertocchi, Ilaria I; Eltokhi, Ahmed A; Rozov, Andrey A; Chi, Vivan Nguyễn VN; Jensen, Vidar V; Bus, Thorsten T; Pawlak, Verena V; Serafino, Marta M; Sonntag, Hannah H; Yang, Boyi B; Burnashev, Nail N; Li, Shi-Bin SB; Obenhaus, Horst A HA; Both, Martin M; Niewoehner, Burkhard B; Single, Frank N FN; Briese, Michael M; Boerner, Thomas T; Gass, Peter P; Rawlins, John Nick P JNP; Köhr, Georg G; Bannerman, David M DM; Sprengel, Rolf R

Publication Date: 2021-01-08

Variant appearance in text: GluN2B: N615I

PubMed Link: 33420383

Variant Present in the following documents:

• Main text

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Voltage-independent GluN2A-type NMDA receptor Ca2+ signaling promotes audiogenic seizures, attentional and cognitive deficits in mice.

Communications Biology

Bertocchi, Ilaria I; Eltokhi, Ahmed A; Rozov, Andrey A; Chi, Vivan Nguyễn VN; Jensen, Vidar V; Bus, Thorsten T; Pawlak, Verena V; Serafino, Marta M; Sonntag, Hannah H; Yang, Boyi B; Burnashev, Nail N; Li, Shi-Bin SB; Obenhaus, Horst A HA; Both, Martin M; Niewoehner, Burkhard B; Single, Frank N FN; Briese, Michael M; Boerner, Thomas T; Gass, Peter P; Rawlins, John Nick P JNP; Köhr, Georg G; Bannerman, David M DM; Sprengel, Rolf R

Publication Date: 2021-01-08

Variant appearance in text: GluN2B: N615I

PubMed Link: 33420383

Variant Present in the following documents:

• Main text

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Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.

F1000Research

Myers, Scott J SJ; Yuan, Hongjie H; Kang, Jing-Qiong JQ; Tan, Francis Chee Kuan FCK; Traynelis, Stephen F SF; Low, Chian-Ming CM

Publication Date: 2019

Variant appearance in text: GluN2B: N615I

PubMed Link: 31807283

Variant Present in the following documents:

• Main text
• f1000research-8-20772.pdf

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De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.

Human Mutation

Li, Jia J; Zhang, Jin J; Tang, Weiting W; Mizu, Ruth K RK; Kusumoto, Hirofumi H; XiangWei, Wenshu W; Xu, Yuchen Y; Chen, Wenjuan W; Amin, Johansen B JB; Hu, Chun C; Kannan, Varun V; Keller, Stephanie R SR; Wilcox, William R WR; Lemke, Johannes R JR; Myers, Scott J SJ; Swanger, Sharon A SA; Wollmuth, Lonnie P LP; Petrovski, Slavé S; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2019-12

Variant appearance in text: GRIN2B: 1844A>T

PubMed Link: 31429998

Variant Present in the following documents:

• Main text

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Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Wei, Feng F; Meng, Heng H; Liu, Xiao-Rong XR; Chen, Qian Q; Su, Tao T; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2019-01

Variant appearance in text: GRIN2B: N615I

PubMed Link: 29895856

Variant Present in the following documents:

• Main text
• 41436_2018_Article_11.pdf

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De Novo Mutations and Rare Variants Occurring in NMDA Receptors.

Current Opinion In Physiology

XiangWei, Wenshu W; Jiang, Yuwu Y; Yuan, Hongjie H

Publication Date: 2018-04

Variant appearance in text: GluN2B: N615I

PubMed Link: 29756080

Variant Present in the following documents:

• Main text

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Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit.

Frontiers In Molecular Neuroscience

Vyklicky, Vojtech V; Krausova, Barbora B; Cerny, Jiri J; Ladislav, Marek M; Smejkalova, Tereza T; Kysilov, Bohdan B; Korinek, Miloslav M; Danacikova, Sarka S; Horak, Martin M; Chodounska, Hana H; Kudova, Eva E; Vyklicky, Ladislav L

Publication Date: 2018

Variant appearance in text: GluN2B: 1844A>T

PubMed Link: 29681796

Variant Present in the following documents:

• Main text
• fnmol-11-00110.pdf

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Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.

Nature Communications

Fedele, Laura L; Newcombe, Joseph J; Topf, Maya M; Gibb, Alasdair A; Harvey, Robert J RJ; Smart, Trevor G TG

Publication Date: 2018-03-06

Variant appearance in text: GluN2B: N615I

PubMed Link: 29511171

Variant Present in the following documents:

• Main text
• 41467_2018_2927_MOESM1_ESM.pdf
• 41467_2018_Article_2927.pdf

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GRIN2B: 1844A>T

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

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Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature.

Child Neurology Open

Mishra, Navin N; Kouzmitcheva, Elizabeth E; Orsino, Angela A; Minassian, Berge A BA

Publication Date: 2016

Variant appearance in text: GRIN2B: 1844A>T; Asn615Ile

PubMed Link: 28503605

Variant Present in the following documents:

• Main text
• 10.1177_2329048X16629980.pdf

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GRIN2B: N615I

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Journal Of Medical Genetics

Platzer, Konrad K; Yuan, Hongjie H; Schütz, Hannah H; Winschel, Alexander A; Chen, Wenjuan W; Hu, Chun C; Kusumoto, Hirofumi H; Heyne, Henrike O HO; Helbig, Katherine L KL; Tang, Sha S; Willing, Marcia C MC; Tinkle, Brad T BT; Adams, Darius J DJ; Depienne, Christel C; Keren, Boris B; Mignot, Cyril C; Frengen, Eirik E; Strømme, Petter P; Biskup, Saskia S; Döcker, Dennis D; Strom, Tim M TM; Mefford, Heather C HC; Myers, Candace T CT; Muir, Alison M AM; LaCroix, Amy A; Sadleir, Lynette L; Scheffer, Ingrid E IE; Brilstra, Eva E; van Haelst, Mieke M MM; van der Smagt, Jasper J JJ; Bok, Levinus A LA; Møller, Rikke S RS; Jensen, Uffe B UB; Millichap, John J JJ; Berg, Anne T AT; Goldberg, Ethan M EM; De Bie, Isabelle I; Fox, Stephanie S; Major, Philippe P; Jones, Julie R JR; Zackai, Elaine H EH; Abou Jamra, Rami R; Rolfs, Arndt A; Leventer, Richard J RJ; Lawson, John A JA; Roscioli, Tony T; Jansen, Floor E FE; Ranza, Emmanuelle E; Korff, Christian M CM; Lehesjoki, Anna-Elina AE; Courage, Carolina C; Linnankivi, Tarja T; Smith, Douglas R DR; Stanley, Christine C; Mintz, Mark M; McKnight, Dianalee D; Decker, Amy A; Tan, Wen-Hann WH; Tarnopolsky, Mark A MA; Brady, Lauren I LI; Wolff, Markus M; Dondit, Lutz L; Pedro, Helio F HF; Parisotto, Sarah E SE; Jones, Kelly L KL; Patel, Anup D AD; Franz, David N DN; Vanzo, Rena R; Marco, Elysa E; Ranells, Judith D JD; Di Donato, Nataliya N; Dobyns, William B WB; Laube, Bodo B; Traynelis, Stephen F SF; Lemke, Johannes R JR

Publication Date: 2017-07

Variant appearance in text: GRIN2B: 1844A>T

PubMed Link: 28377535

Variant Present in the following documents:

• Main text

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Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

Plos Genetics

Ogden, Kevin K KK; Chen, Wenjuan W; Swanger, Sharon A SA; McDaniel, Miranda J MJ; Fan, Linlin Z LZ; Hu, Chun C; Tankovic, Anel A; Kusumoto, Hirofumi H; Kosobucki, Gabrielle J GJ; Schulien, Anthony J AJ; Su, Zhuocheng Z; Pecha, Joseph J; Bhattacharya, Subhrajit S; Petrovski, Slavé S; Cohen, Adam E AE; Aizenman, Elias E; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2017-01

Variant appearance in text: GRIN2B: 1844A>T

PubMed Link: 28095420

Variant Present in the following documents:

• pgen.1006536.s003.pdf
• pgen.1006536.s009.pdf

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Human GRIN2B variants in neurodevelopmental disorders.

Journal Of Pharmacological Sciences

Hu, Chun C; Chen, Wenjuan W; Myers, Scott J SJ; Yuan, Hongjie H; Traynelis, Stephen F SF

Publication Date: 2016-10

Variant appearance in text: GluN2B: 1844A>T

PubMed Link: 27818011

Variant Present in the following documents:

• Main text
• nihms830120.pdf

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In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurology. Genetics

Oliver, Karen L KL; Lukic, Vesna V; Freytag, Saskia S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Bahlo, Melanie M

Publication Date: 2016-02

Variant appearance in text: GRIN2B: 1844A>T; Asn615Ile

PubMed Link: 27066588

Variant Present in the following documents:

• supp_2.1.e51_table_e-2.xlsx, sheet 1

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Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Molecular Pharmacology

Yuan, Hongjie H; Low, Chian-Ming CM; Moody, Olivia A OA; Jenkins, Andrew A; Traynelis, Stephen F SF

Publication Date: 2015-07

Variant appearance in text: GluN2B: N615I

PubMed Link: 25904555

Variant Present in the following documents:

• Main text

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Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.

Communicative & Integrative Biology

Soto, David D; Altafaj, Xavier X; Sindreu, Carlos C; Bayés, Alex A

Publication Date: 2014-01-01

Variant appearance in text: GRIN2B: N615I

PubMed Link: 24605182

Variant Present in the following documents:

• Main text

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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Annals Of Neurology

Lemke, Johannes R JR; Hendrickx, Rik R; Geider, Kirsten K; Laube, Bodo B; Schwake, Michael M; Harvey, Robert J RJ; James, Victoria M VM; Pepler, Alex A; Steiner, Isabelle I; Hörtnagel, Konstanze K; Neidhardt, John J; Ruf, Susanne S; Wolff, Markus M; Bartholdi, Deborah D; Caraballo, Roberto R; Platzer, Konrad K; Suls, Arvid A; De Jonghe, Peter P; Biskup, Saskia S; Weckhuysen, Sarah S

Publication Date: 2014-01

Variant appearance in text: GRIN2B: 1844A>T; Asn615Ile

PubMed Link: 24272827

Variant Present in the following documents:

• Main text
• ana0075-0147.pdf

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