GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy (Q34470572)

24272827

2 August 2017

title

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy (English)

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disability affecting intellectual abilities

2 August 2017

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intellectual disability

1 reference

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1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24272827%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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8 June 2020

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8 June 2020

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8 June 2020

Johannes R Lemke

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8 June 2020

Saskia Biskup

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8 June 2020

Peter De Jonghe

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8 June 2020

Konstanze Hörtnagel

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8 June 2020

Markus Wolff

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8 June 2020

Rik Hendrickx

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8 June 2020

Kirsten Geider

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8 June 2020

Bodo Laube

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8 June 2020

Victoria M James

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8 June 2020

Alex Pepler

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8 June 2020

Isabelle Steiner

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8 June 2020

John Neidhardt

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8 June 2020

Susanne Ruf

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8 June 2020

Deborah Bartholdi

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8 June 2020

Roberto Caraballo

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8 June 2020

Konrad Platzer

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8 June 2020

language of work or name

1 reference

2 January 2014

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2 August 2017

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inferred from page(s)

published in

Annals of Neurology

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8 June 2020

volume

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8 June 2020

issue

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8 June 2020

page(s)

147-154

1 reference

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De novo mutations in epileptic encephalopathies

8 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

6 July 2018

1 reference

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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

6 July 2018

1 reference

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NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

6 July 2018

1 reference

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

1 reference

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

6 July 2018

1 reference

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 July 2018

1 reference

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Molecular basis of NMDA receptor functional diversity.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

Synaptic versus extrasynaptic NMDA receptor signalling: implications for neurodegenerative disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

6 July 2018

1 reference

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Potentiation of Glycine-Gated NR1/NR3A NMDA Receptors Relieves Ca-Dependent Outward Rectification.

6 July 2018

1 reference

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

6 July 2018

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Subunit arrangement and function in NMDA receptors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

UCSF Chimera--a visualization system for exploratory research and analysis

6 July 2018

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

6 July 2018

1 reference

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Evidence for a tetrameric structure of recombinant NMDA receptors.

6 July 2018

1 reference

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Molecular determinants of agonist discrimination by NMDA receptor subunits: analysis of the glutamate binding site on the NR2B subunit

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

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

6 July 2018

1 reference

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

21 January 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

21 January 2018

1 reference

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

21 January 2018

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West syndrome caused by ST3Gal-III deficiency.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223934

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24272827

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.24073

1 reference

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8 June 2020

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8 June 2020

24272827

1 reference

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