(Q34423190)

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Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

intractable epilepsy

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based on heuristic

inferred from title

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Jeremy Schwartzentruber

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

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Kym M Boycott

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20 March 2020

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Jacek Majewski

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20 March 2020

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FORGE Canada Consortium

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20 March 2020

Chandree L Beaulieu

4

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Chandree L Beaulieu

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Dennis E Bulman

8

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Dennis Bulman

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Sunita Venkateswaran

1

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20 March 2020

Amanda C Smith

3

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20 March 2020

David A Dyment

10

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20 March 2020

publication date

5 June 2014

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

55

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20 March 2020

7

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Europe PubMed Central

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20 March 2020

e75-9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Genetics of the epilepsies: where are we and where are we going?

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Molecular mechanisms of antiseizure drug activity at GABAA receptors

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Two patients with a GRIN2A mutation and childhood-onset epilepsy

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12663

21 January 2018

Identifiers

10.1111/EPI.12663

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24903190%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

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