GRIN2A mutations cause epilepsy-aphasia spectrum disorders (Q37405551)

20 August 2017

GRIN2A mutations cause epilepsy-aphasia spectrum disorders (English)

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20 August 2017

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Michael S. Hildebrand

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Brigid M Regan

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Brian J O'Roak

Brian J O'Roak

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Ingrid Scheffer

Ingrid E Scheffer

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Samuel Berkovic

Samuel F Berkovic

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Lynette Sadleir

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Lynette G Sadleir

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Heather C Mefford

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Gemma L Carvill

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Simone C Yendle

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Adiba Khan

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Eileen Geraghty

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Natalia Lozovaya

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Nadine Bruneau

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Nail Burnashev

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Joseph Cook

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Samantha J Turner

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Meng-Han Tsai

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Richard Webster

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Robert Ouvrier

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John A Damiano

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Pierre Szepetowski

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language of work or name

English

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publication date

11 August 2013

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1073-1076

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https://scigraph.springernature.com/pub.10.1038/ng.2727

20 August 2017

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cites work

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Glutamate receptor ion channels: structure, regulation, and function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

SRPX2 mutations in disorders of language cortex and cognition

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Encephalopathy with electrical status epilepticus during slow sleep or ESES syndrome including the acquired aphasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Speech and oromotor deficits of epileptic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS). Relationship to the acquired aphasia-epilepsy syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Clinical genetic study of the epilepsy-aphasia spectrum

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Diagnostic exome sequencing in persons with severe intellectual disability

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3868952

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

3 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2727

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.2727

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Dimensions Publication ID

20 August 2017

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20 August 2017

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