About: GRIN2A-related disorders: genotype and functional consequence predict phenotype

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scientific article published on 01 January 2019

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description	wetenschappelijk artikel (nl) научна статия (bg) artículo científico publicado en 2019 (es) наукова стаття, опублікована в січні 2019 (uk) article scientifique (publié 2019) (fr) artigo científico (publicado na 2019) (pt) articolo scientifico (pubblicato il 2019) (it) artikull shkencor i botuar më 01 janar 2019 (sq) scientific article published on 01 January 2019 (en) 2019 թվականին հրատարակված գիտական հոդված (hy) artículu científicu espublizáu en xineru de 2019 (ast) im Januar 2019 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q60957951-D8FF7293-3420-47D5-B3D9-5846F10B7FB3
publication date	2019-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q60957951-CA0937BC-6EF0-48ED-9E89-05526F7CE02F
language of work or name	English
cites work	wds:Q60957951-12C423B0-A03B-4833-AC90-808DAC588448 wds:Q60957951-28232F37-B319-4C2A-A36D-9BBBB140D163 wds:Q60957951-2FBF4E0C-0B19-42CA-8B36-491BC0481340 wds:Q60957951-3231B683-7556-4536-B40A-5FA6153F3F07 wds:Q60957951-373A4F27-CDCD-43F8-A57F-E1BB7FD25BAF wds:Q60957951-3F830F26-3F59-447C-AA60-C89D40523160 wds:Q60957951-4A74FAB8-5C56-4B02-AA81-B592331712BB wds:Q60957951-4F0FF4B3-5378-413D-8389-4C2492178741 wds:Q60957951-4FE558EA-112B-4E66-8F8F-39CBFAE54D11 wds:Q60957951-52F52B27-1867-4991-934E-3EF5625E26C2 wds:Q60957951-591D9052-C3DB-4998-8350-B81028844B06 wds:Q60957951-5BD280F4-E2A1-45BD-A2DF-3A0104739D3D wds:Q60957951-6279153C-8FD3-4906-B945-B04201D3CA51 wds:Q60957951-74D774E1-A9B4-467C-B679-65E55DA8AC4D wds:Q60957951-7F9603AF-6EA4-4FDA-9862-E5964DB655AB wds:Q60957951-855EAA65-BC70-4229-8341-DFC9B879D743 wds:Q60957951-87E9BD68-BFB2-4C47-979A-E62FD2946FCF wds:Q60957951-993E1442-809B-4DC0-8509-E3C635723F6A wds:Q60957951-9B31CB5B-E277-4141-A9C7-F6AAFBD0709C wds:Q60957951-A553A1FF-F4CB-42B4-B003-8BD4D0A3FA30 wds:Q60957951-AEB7A391-FBA2-4915-A442-6E97EB8AEAEA wds:Q60957951-BE60B61F-BEFE-4794-A4C3-C0A378F07109 wds:Q60957951-CEB67893-9E03-4359-8843-958A289D3E79 wds:Q60957951-CEEB196E-34EC-4A91-89F5-3F76B208F919 wds:Q60957951-D5174C1A-AC62-4717-90B7-F69D88489AFA wds:Q60957951-E97FDCBA-2F99-418A-B222-DAB785C95BD7 wds:Q60957951-F0C9DA96-9A49-46D1-ADFF-E8F8E5E0B43F wds:Q60957951-F81A676C-7115-41C7-874F-096FD05F4914
cites work	Glutamate receptor ion channels: structure, regulation, and function Influence of GluN2 subunit identity on NMDA receptor function. NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine GRIN2A mutations cause epilepsy-aphasia spectrum disorders GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Analysis of protein-coding genetic variation in 60,706 humans Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes Gene Expression Switching of Receptor Subunits in Human Brain Development 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 Glutamate receptor composition of the post-synaptic density is altered in genetic mouse models of NMDA receptor hypo- and hyperfunction Pituitary adenylate cyclase-activating peptide induces long-lasting neuroprotection through the induction of activity-dependent signaling via the cyclic AMP response element-binding protein-regulated transcription co-activator 1. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue TCN 201 selectively blocks GluN2A-containing NMDARs in a GluN1 co-agonist dependent but non-competitive manner Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo. Allosteric modulators of NMDA receptors: multiple sites and mechanisms. Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. De Novo Mutations and Rare Variants Occurring in NMDA Receptors Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.
author name string	wds:Q60957951-2A76D3F6-CB42-4FCE-BB4F-D41A9DD759A2 wds:Q60957951-36774145-C4DB-40D4-BD2E-3289216EB596 wds:Q60957951-38FCC658-444A-4F73-82E8-DD899095CC39 wds:Q60957951-42CA2783-C6D6-4E48-8150-462B73ACD8B8 wds:Q60957951-4D38F267-4B01-4C28-AEB4-1B8A926FE9B4 wds:Q60957951-9C44DEF2-D13D-496D-BCFE-DA6C465DEDA6 wds:Q60957951-B81FD115-03E4-41E5-A4B0-FD08DEDE0ED9 wds:Q60957951-BD9F34FF-3ED6-4C24-A00C-53571AD62A79 wds:Q60957951-CA6C8752-72E8-40C9-A5B1-20047BF1B45D wds:Q60957951-D706B891-A49A-4BC8-A94D-8F152F00DA24 wds:Q60957951-E8CCAFA9-EF95-413C-AC53-C6F35702E981 wds:Q60957951-EBBD6809-BCCA-4702-9588-0D20F6BC803F wds:Q60957951-EECDB711-53A6-4268-984B-46B419FF1990 wds:Q60957951-F5001D69-9C81-4231-B9B0-261CE7DE9521 wds:Q60957951-FF1C41AE-9852-40BE-B448-B920DA60D810
author name string	Saskia Biskup Conny M A van Ravenswaaij-Arts Johannes R Lemke Konrad Platzer Eva H Brilstra Edouard Hirsch Patrick Rump Gaetan Lesca Julia Hentschel Cyril Mignot Vincent Strehlow Oebele F Brouwer

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