Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 8
2017 6
2018 7
2019 4
2020 5
2021 17
2022 17
2023 8
2024 11
2025 12
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

82 results

Results by year

Filters applied: . Clear all
Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected …
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy an …
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial (NCT04646447) designed to evaluate the tolerability and efficacy of L-serine …
GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we …
Human GRIN2B variants in neurodevelopmental disorders.
Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Hu C, et al. J Pharmacol Sci. 2016 Oct;132(2):115-121. doi: 10.1016/j.jphs.2016.10.002. Epub 2016 Oct 19. J Pharmacol Sci. 2016. PMID: 27818011 Free PMC article. Review.
The GRIN2B gene plays a crucial role in normal neuronal development and is important for learning and memory. Mutations in human GRIN2B were distributed throughout the entire gene in a number of patients with various neuropsychiatric and developmental disorders. ...
The GRIN2B gene plays a crucial role in normal neuronal development and is important for learning and memory. Mutations in human G …
Epigenetics in Learning and Memory.
van Zundert B, Montecino M. van Zundert B, et al. Subcell Biochem. 2025;108:51-71. doi: 10.1007/978-3-031-75980-2_2. Subcell Biochem. 2025. PMID: 39820860 Review.
But what are the molecular mechanisms that govern the expression of immediate-early genes (IEGs; c-fos, Npas4) and plasticity-related genes (PRGs; Dlg4/PSD95 and Grin2b/NR2B) in memory ensemble? Studies in relatively simple in vitro and in vivo neuronal model systems have …
But what are the molecular mechanisms that govern the expression of immediate-early genes (IEGs; c-fos, Npas4) and plasticity-related genes …
Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.
Myers SJ, Yuan H, Kang JQ, Tan FCK, Traynelis SF, Low CM. Myers SJ, et al. F1000Res. 2019 Nov 20;8:F1000 Faculty Rev-1940. doi: 10.12688/f1000research.18949.1. eCollection 2019. F1000Res. 2019. PMID: 31807283 Free PMC article. Review.
This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in GRIN2A and GRIN2B. Comparison of clinical phenotypes shows that GRIN2A variants are commonly associated with an epileptic phenotype but …
This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in GR …
Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
Gjerulfsen CE, Krey I, Klöckner C, Rubboli G, Lemke JR, Møller RS. Gjerulfsen CE, et al. Methods Mol Biol. 2024;2799:1-11. doi: 10.1007/978-1-0716-3830-9_1. Methods Mol Biol. 2024. PMID: 38727899 Review.
N-methyl-D-aspartate receptors (NMDAR) are ligand-gated ion channels mediating excitatory neurotransmission and are important for normal brain development, cognitive abilities, and motor functions. Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-asparta …
N-methyl-D-aspartate receptors (NMDAR) are ligand-gated ion channels mediating excitatory neurotransmission and are important for normal …
Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission.
Santos-Gómez A, Juliá-Palacios N, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, García-Cazorla À, Altafaj X. Santos-Gómez A, et al. J Inherit Metab Dis. 2025 Mar;48(2):e70015. doi: 10.1002/jimd.70015. J Inherit Metab Dis. 2025. PMID: 40024627 Free PMC article.
Functionally, the putative therapeutic benefit of spermidine (spermine precursor) was assessed in constitutive Grin2b(+/-) heterozygous mice, a GRIN2B-LoF genetic murine model recapitulating GRD-like synaptic, motor, and cognitive alterations. Chronic spermidine adm …
Functionally, the putative therapeutic benefit of spermidine (spermine precursor) was assessed in constitutive Grin2b(+/-) heterozygo …
Inhibition of GluN2B-containing N-methyl-D-aspartate receptors by radiprodil.
Banke TG, Regan MC, Perszyk RE, Zhang L, Xing H, Chen J, Won S, Simorowski N, Diaz ES, Kim S, Song R, Rong J, Zhou X, Chaudhary AF, Zhang J, Traynelis JF, McDaniels ED, Nitsche K, Roache S, Raymond CS, Low CM, Myers SJ, Roche KW, Liang SH, Traynelis SF, Furukawa H, Yuan H. Banke TG, et al. Brain. 2026 Mar 5;149(3):976-992. doi: 10.1093/brain/awaf355. Brain. 2026. PMID: 40994429 Free PMC article.
N-methyl-D-aspartate (NMDA) receptors mediate a slow, Ca2+-permeable component of excitatory synaptic transmission in the brain and participate in neuronal development and synaptic plasticity. Most NMDA receptors are tetrameric assemblies of two GluN1 and two GluN2 subunit …
N-methyl-D-aspartate (NMDA) receptors mediate a slow, Ca2+-permeable component of excitatory synaptic transmission in the brain and p …
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L, Vázquez-Mosquera ME, Colón-Mejeras C, Álvarez JV, López-Pardo BM, López LL, Sánchez-Martínez R, López-Mendoza M, López-Rodríguez M, Villacorta-Argüelles E, Goicoechea-Diezhandino MA, Guerrero-Márquez FJ, Ortolano S, Leao-Teles E, Hermida-Ameijeiras Á, Couce ML. López-Valverde L, et al. Neurobiol Dis. 2025 Jun 1;209:106908. doi: 10.1016/j.nbd.2025.106908. Epub 2025 Apr 13. Neurobiol Dis. 2025. PMID: 40233852 Free article.
Notable identified genes included those encoding voltage-gated potassium channel genes (KCNQ2, KCNQ3, KCNMA1) and ionotropic receptor genes involved in glutamatergic (GRIN2A, GRIN2B) and GABAergic systems (GABRA4, GABRB1, GABRG2, GABRQ). These findings suggest that lysosom …
Notable identified genes included those encoding voltage-gated potassium channel genes (KCNQ2, KCNQ3, KCNMA1) and ionotropic receptor genes …
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C, Kessi M, Liu F, He F, Peng J. Xie C, et al. Orphanet J Rare Dis. 2025 Oct 27;20(1):541. doi: 10.1186/s13023-025-04055-x. Orphanet J Rare Dis. 2025. PMID: 41146259 Free PMC article.
BACKGROUND: Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our understanding of the genotype-phenotype correlations and the optimal treatment strategies is limited. ...CONCLUSIONS: This study reports five novel …
BACKGROUND: Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our underst …
82 results