GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. - Wikidata - awgldk - TriplyDB

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

http://www.wikidata.org/entity/Q33604210

about

Targeted Treatment in Childhood Epilepsy Syndromes Advancing epilepsy genetics in the genomic era GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.Important role of translational science in rare disease innovation, discovery, and drug development.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.A roadmap for precision medicine in the epilepsies.Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants 2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.When Should Genetic Testing Be Performed in Epilepsy Patients?GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.New genes for focal epilepsies with speech and language disorders.The genetics of the epilepsies.Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.Single-Dose Memantine Improves Cortical Oscillatory Response Dynamics in Patients with Schizophrenia.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Precision medicine in genetic epilepsies: break of dawn?Pharmacogenomics in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Genetics of Epilepsy in Clinical Practice.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Structural Basis for Negative Allosteric Modulation of GluN2A-Containing NMDA Receptors.GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.Precision Medicine: NMDA Receptor-Targeted Therapy for GRIN2D Encephalopathy.STXBP1 as a therapeutic target for epileptic encephalopathy.Current Status of Treatments for Children with Electrical Status in Slow-Wave Sleep (ESES/CSWS).Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.NMDA Receptors in the Central Nervous System.Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.[Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.

P2860

Q26751431-E631A50E-5FC9-4C77-B365-D86C74D97943 Q26798035-2301CAFE-DBBB-4F16-AB84-C327E0908A23 Q28119074-EB8A3C6B-0C39-4715-BDD7-4F49CDA4F7A7 Q33729428-2DB6209B-FDEF-4E5E-86B3-D3FC99FAEF68 Q33734811-D09AD593-B2D8-4AB1-8AB7-ECD1EB54AB4C Q34011948-992E55B8-741D-425B-9DDD-F9AEB31FD259 Q35745930-006EDF49-685D-4EAD-AEB3-5DDEEAB0BFAF Q36330968-6C6CC615-E91E-4D60-9C74-F04C942F6195 Q36931649-6A54F3B6-FC15-4E87-96E0-471E6876DB58 Q37021052-E78B0ED5-6C0E-41F9-9012-A8CA429BF8EF Q37356251-DD69A5B7-3DBE-4C7D-A085-66E84269FC7A Q37480684-3D3E5165-A880-4224-A9D1-2A6256DED072 Q37685114-20095F63-575A-43FE-8FFA-4C47311FC2AB Q38313741-6EA53546-F83D-4609-ACD7-320A5D8FFEEF Q38447528-481E1EDB-000D-4847-B07B-115861A9B7D6 Q38501842-29550261-7E26-4E7B-A2C0-521CB0169795 Q38576243-D957D489-2C0A-49B8-B9AE-F4E14107B92C Q38600646-1F78250A-A511-4383-A88C-AB1B9378B6AF Q38752558-1B438662-8668-4C18-852E-D43D49D8DC45 Q38829187-5245686C-7B5B-4B3F-927F-6EF6FEE19637 Q38854549-5905D55D-0BB2-4BF0-8D66-9E8F104C57D3 Q38990891-8ECF02F5-A6CA-4421-81D1-F3E93F1917FA Q39084353-21A5B7BE-53DA-418F-9BCD-21E885583B9F Q39136036-07F3BA27-3C28-437A-83F4-5E6D2C36E050 Q40597290-B46C56F8-20DD-4B52-B697-B0EB6F969F2F Q40929545-2CCBA2EA-3A27-4B7B-8822-B05142422C66 Q41159277-369E3F15-B22E-4D12-83E5-60D43431C1BC Q42140574-87DE1ED1-C6DF-4A2D-922F-93AF2854768B Q42289693-CFDD9529-6842-4BDE-9799-58DDC3A5D8A2 Q45872724-BA567D7F-9808-4BD1-9029-5D1102456B93 Q47169181-4B13FEC8-2FD9-41C3-8870-CFE5ADDA557F Q47269323-C635F11F-110D-43FD-86CA-C6BE67FA669F Q47445785-50FBB3EF-4BFA-479D-A880-606130CB238D Q47619589-675E5B28-56FA-4208-84EF-630724259C0A Q47842300-A763A044-AB80-4235-A0E0-4654265444DC Q48029905-AA3E4363-D10A-4C3A-976B-9BB2E242C65B Q48101899-DBE46938-C0C8-4824-9C6E-73A5D5DC8647 Q48337984-41C61BEF-2216-4FF5-A819-CC065FE71771 Q49971762-93EDD6F9-6545-4C88-9C12-64E6ADD50A6A Q50418409-226F68B4-1EAE-4591-AA09-66BEC45CCC2F

P2860

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

http://www.wikidata.org/entity/Q33604210

description

2014 nî lūn-bûn

@nan

2014 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մարտին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@ast

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@en

type

label

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@ast

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@en

prefLabel

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@ast

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@en

P1433

Q33604210-D26BB639-5DFD-48E8-A96D-D807F24165F5

P1476

Q33604210-898A6387-0AFA-4CC9-BABC-B236156986BA

P2093

Q33604210-013A5DCD-B804-40C1-9639-BDF32601FB38

Q33604210-04A15B23-67D7-49E7-8605-F0A2553CCA1C

Q33604210-0E13E5B1-5320-498B-ACB6-EBA423D58092

Q33604210-18CD4921-C6EC-42B8-B11A-103A8FBF3E0B

Q33604210-1D7C9A61-95E8-4DB5-B4DF-95B7833B585F

Q33604210-23B2F58A-88E8-4651-8C12-AE4F8038B369

Q33604210-2B6BC031-8D6A-46CD-9F1E-4FCA453F4C5A

Q33604210-331112AF-E653-45B2-8AC5-79EDEC46F69C

Q33604210-4073407B-4670-4AF4-BE8F-A9F7E4BB7E89

Q33604210-46DF9A8C-E6B6-4DF1-9DA9-104CF1B826CF

P2860

Q33604210-029D2723-B978-4CD7-9DB2-DFBF684F7933

Q33604210-1A7B46B4-86C2-4245-8046-BE04E16D5A49

Q33604210-1B119D8D-CC2A-40EE-B4F8-D7B5037F6039

Q33604210-3F4505BE-4BE5-4661-AFF0-F79EC5ED4D0E

Q33604210-5010EDAF-D74F-4BD5-8963-A75C25A38B0A

Q33604210-50E6E314-66C7-442D-B8E9-3925944C390A

Q33604210-5C0DAF30-A77B-4FB5-9077-C9494299802A

Q33604210-5D68D7B4-766B-4F75-9C4A-A0304530D58C

Q33604210-5FC34C6B-71F9-45DE-AF18-B38698C2258A

Q33604210-686E8DDD-E097-4E64-B4F3-063B4EA72582

P304

Q33604210-C3FAE2F9-8812-4A39-BFE4-4D000B88C020

P31

Q33604210-C4FB8125-5AB7-4775-87AB-3E974954799F

P356

Q33604210-E886D53A-BFEE-4C77-BC87-0A9C76E7AA75

P433

Q33604210-A19A121F-0DFA-4626-A10C-A027168A92B3

P478

Q33604210-A08DB0E4-5DC3-4D68-BC91-4E8637835D9A

P50

Q33604210-1276790E-09EE-4009-894A-F880DA5FC7B6

Q33604210-8F3DA646-A0CF-447F-B8A7-FE20EB0B22D8

Q33604210-A7ED15A8-9A2D-4D35-9D51-44BCB3C627F7

P577

Q33604210-1CCF1529-391F-4037-819C-F16D8C3C709C

P5875

Q33604210-94060D30-A3A6-49E8-BB61-11FF6180A004

P698

Q33604210-E5AD0062-C480-43CA-90BE-27EC4FAD01D0

P932

Q33604210-EFB09739-48EE-42D9-800F-FAF1603EB206

P356

P1433

Annals of clinical and translational neurology

P1476

GRIN2A mutation and early-onse ...... alized therapy with memantine.

@en

P2093

Anel Tankovic

http://www.w3.org/2001/XMLSchema#string

Camilo Toro

http://www.w3.org/2001/XMLSchema#string

Conisha Holloman

http://www.w3.org/2001/XMLSchema#string

Cornelius F Boerkoel

http://www.w3.org/2001/XMLSchema#string

Cynthia J Tifft

http://www.w3.org/2001/XMLSchema#string

David R Adams

http://www.w3.org/2001/XMLSchema#string

Eric D Marsh

http://www.w3.org/2001/XMLSchema#string

Gretchen Golas

http://www.w3.org/2001/XMLSchema#string

Hongjie Yuan

http://www.w3.org/2001/XMLSchema#string

Karin Fuentes-Fajardo

http://www.w3.org/2001/XMLSchema#string

P2860

X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor

Adjacent asparagines in the NR2-subunit of the NMDA receptor channel control the voltage-dependent block by extracellular Mg2+.

Memantine as adjunctive therapy in children diagnosed with autistic spectrum disorders: an observation of initial clinical response and maintenance tolerability

A retrospective study of memantine in children and adolescents with pervasive developmental disorders

Glutamate receptor ion channels: structure, regulation, and function

Developmental and regional expression in the rat brain and functional properties of four NMDA receptors

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.

Mechanism for noncompetitive inhibition by novel GluN2C/D N-methyl-D-aspartate receptor subunit-selective modulators

P304

190-198

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/ACN3.39

http://www.w3.org/2001/XMLSchema#string

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

1

http://www.w3.org/2001/XMLSchema#string

P50

John M Schreiber

Dimitre R Simeonov

James C Mullikin

P577

2014-03-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

260531981

http://www.w3.org/2001/XMLSchema#string

P698

24839611

http://www.w3.org/2001/XMLSchema#string

P932

4019449

http://www.w3.org/2001/XMLSchema#string