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539 results

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Page 1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been …
AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Incr …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX …
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19- …
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
Okano S, Makita Y, Miyamoto A, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T. Okano S, et al. Hum Genome Var. 2023 Feb 2;10(1):4. doi: 10.1038/s41439-023-00232-1. Hum Genome Var. 2023. PMID: 36726007 Free PMC article.
The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic alpha amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. ...Here, we report a female pa …
The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic alpha amino-3-hydroxy-5-methyl-4- …
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou A, Armstrong J, Palau F, Hoenicka J, San Antonio-Arce V. Martinez-Esteve Melnikova A, et al. Eur J Med Genet. 2022 Mar;65(3):104442. doi: 10.1016/j.ejmg.2022.104442. Epub 2022 Jan 28. Eur J Med Genet. 2022. PMID: 35093607 Review.
Three different de novo missense variants of GRIA3 have recently been reported in patients with Developmental and Epileptic Encephalopathy (DEE). ...In summary, our report expands knowledge of GRIA3 variants affecting boys and girls, describes functional studies of …
Three different de novo missense variants of GRIA3 have recently been reported in patients with Developmental and Epileptic Encephalo …
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Sjøstrøm E, Studniarczyk D, Dou X, Dahl RS, Cruz V, Wang H, Mercier S, Deb W, Besnard T, Friedman J, Essid M, Karoui S, Jemaa LB, Benyounes T, Lesca G, Tonduti D, Iascone M, Orcesi S, Fradin M, Dubourg C, Napuri S, Cull-Candy SG, Coombs ID, Farrant M, Bayat A. Sjøstrøm E, et al. Clin Genet. 2025 Nov;108(5):553-565. doi: 10.1111/cge.14770. Epub 2025 May 20. Clin Genet. 2025. PMID: 40391499 Free PMC article.
We recruited nine unrelated patients with either known disease-causing GOF variants in GRIA3 at position p.Gly803 or variants at the paralogous position in GRIA2 (p.Gly792). Specifically, five patients carried a de novo GRIA3 variant (p.Gly803Glu or p.Gly803Val), on …
We recruited nine unrelated patients with either known disease-causing GOF variants in GRIA3 at position p.Gly803 or variants at the …
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Piard J, Béreau M, XiangWei W, Wirth T, Amsallem D, Buisson L, Richard P, Liu N, Xu Y, Myers SJ, Traynelis SF, Chelly J, Anheim M, Raynaud M, Maldergem LV, Yuan H. Piard J, et al. Mov Disord. 2020 Jul;35(7):1224-1232. doi: 10.1002/mds.28058. Epub 2020 May 5. Mov Disord. 2020. PMID: 32369665 Free PMC article.
CONCLUSIONS: Taken together, our results suggest that apart from known GRIA3-related disorders, an undescribed mutation-specific singular movement disorder does exist. We thus advocate considering GRIA3 mutations in the differential diagnosis of hyperekplexia and ge …
CONCLUSIONS: Taken together, our results suggest that apart from known GRIA3-related disorders, an undescribed mutation-specific sing …
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
Trivisano M, Santarone ME, Micalizzi A, Ferretti A, Dentici ML, Novelli A, Vigevano F, Specchio N. Trivisano M, et al. Seizure. 2020 Nov;82:1-6. doi: 10.1016/j.seizure.2020.08.032. Epub 2020 Sep 22. Seizure. 2020. PMID: 32977175 Free article.
PURPOSE: GRIA3, encoding subunit 3 of glutamate ionotropic AMPA receptor, is associated with X-linked intellectual disability (ID), dysmorphic features, and non-syndromic epilepsy. ...CONCLUSION: Our report expands knowledge on the electro-clinical and molecular spectrum o …
PURPOSE: GRIA3, encoding subunit 3 of glutamate ionotropic AMPA receptor, is associated with X-linked intellectual disability (ID), d …
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K, Miyoshi K, Sun JH, Hamada K, Komatsubara T, Saida K, Tsuchida N, Uchiyama Y, Fujita A, Mizuguchi T, Gerard B, Bayat A, Rinaldi B, Kato M, Tohyama J, Ogata K, Shi YS, Saito K, Miyatake S, Matsumoto N. Hamanaka K, et al. Hum Genet. 2022 Feb;141(2):283-293. doi: 10.1007/s00439-021-02416-7. Epub 2022 Jan 15. Hum Genet. 2022. PMID: 35031858
Hemizygous loss-of-function (LOF) variants in GRIA3 cause a neurodevelopmental disorder (NDD) in male individuals. Here, we report a gain-of-function (GOF) variant at GRIA3 in a male patient. ...This study should help in refining the clinical management of GRIA3 …
Hemizygous loss-of-function (LOF) variants in GRIA3 cause a neurodevelopmental disorder (NDD) in male individuals. Here, we report a …
Acetylation of H3K27 activated lncRNA NEAT1 and promoted hepatic lipid accumulation in non-alcoholic fatty liver disease via regulating miR-212-5p/GRIA3.
Hu MJ, Long M, Dai RJ. Hu MJ, et al. Mol Cell Biochem. 2022 Jan;477(1):191-203. doi: 10.1007/s11010-021-04269-0. Epub 2021 Oct 15. Mol Cell Biochem. 2022. PMID: 34652536 Free PMC article.
LncRNA NEAT1 and GRIA3 was upregulated, while miR-212-5p was downregulated in NAFLD patients. FFA promoted lncRNA NEAT1 and GRIA3 expression while suppressing miR-212-5p and promoted lipid accumulation as indicated by increased oil red O staining and FAS and ACC exp …
LncRNA NEAT1 and GRIA3 was upregulated, while miR-212-5p was downregulated in NAFLD patients. FFA promoted lncRNA NEAT1 and GRIA3 …
539 results