(Q33604210)

28 July 2017

title

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine (English)

1 reference

28 July 2017

John M Schreiber

12

0 references

Dimitre R Simeonov

object named as

Dimitre R Simeonov

8

0 references

James C Mullikin

13

object named as

James C Mullikin

1 reference

28 July 2017

Tyler Mark Pierson

1

1 reference

28 July 2017

Hongjie Yuan

2

1 reference

28 July 2017

Eric D Marsh

3

1 reference

28 July 2017

Karin Fuentes-Fajardo

4

1 reference

28 July 2017

David R Adams

5

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28 July 2017

Thomas Markello

6

1 reference

28 July 2017

Gretchen Golas

7

1 reference

28 July 2017

Conisha Holloman

9

1 reference

28 July 2017

Anel Tankovic

10

1 reference

28 July 2017

Manish M Karamchandani

11

1 reference

28 July 2017

PhD for the NISC Comparative Sequencing Program

14

1 reference

28 July 2017

Cynthia J Tifft

15

1 reference

28 July 2017

Camilo Toro

16

1 reference

28 July 2017

Cornelius F Boerkoel

17

1 reference

28 July 2017

Stephen F Traynelis

18

1 reference

28 July 2017

William A Gahl

19

1 reference

28 July 2017

language of work or name

1 reference

1 March 2014

1 reference

Annals of clinical and translational neurology

28 July 2017

published in

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28 July 2017

volume

1

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28 July 2017

issue

3

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28 July 2017

page(s)

190-198

1 reference

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

28 July 2017

cites work

1 reference

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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

21 June 2018

1 reference

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

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

21 June 2018

1 reference

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Molecular pharmacology of human NMDA receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

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

21 June 2018

1 reference

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The NMDA receptor complex as a therapeutic target in epilepsy: a review

21 June 2018

1 reference

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

21 June 2018

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

21 June 2018

1 reference

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Specific sites within the ligand-binding domain and ion channel linkers modulate NMDA receptor gating

21 June 2018

1 reference

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Glutamate receptor ion channels: structure, regulation, and function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

A unified model of the presynaptic and postsynaptic changes during LTP at CA1 synapses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

Differential binding properties of [3H]dextrorphan and [3H]MK-801 in heterologously expressed NMDA receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

Control of voltage-independent zinc inhibition of NMDA receptors by the NR1 subunit.

21 June 2018

1 reference

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

21 June 2018

1 reference

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Glutamate receptors and the induction of excitotoxic neuronal death

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

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

21 June 2018

1 reference

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Pharmacogenetics of dextromethorphan O-demethylation in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4019449

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 June 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

21 January 2018

1 reference

Differential expression of five N-methyl-D-aspartate receptor subunit mRNAs in the cerebellum of developing and adult rats.

21 January 2018

1 reference

Statistical Process Control (SPC)—A simple objective method for monitoring seizure frequency and evaluating effectiveness of drug interventions in refractory childhood epilepsy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24839611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The NIH Undiagnosed Diseases Program: lessons learned

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24839611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ACN3.39

1 reference

28 July 2017

1 reference

28 July 2017

1 reference