(Q39112355)

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

scientific article published on 11 August 2013

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scholarly article

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Europe PubMed Central

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9 September 2017

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

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Europe PubMed Central

PubMed publication ID

9 September 2017

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Philippe Ryvlin

22

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9 September 2017

Nadia Boutry-Kryza

6

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Nadia Boutry-Kryza

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9 September 2017

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Sukhvir Wright

11

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Laura Addis

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Gabrielle Rudolf

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Gabrielle Rudolf

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Damien Sanlaville

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Damien Sanlaville

28

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object named as

Angela Vincent

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9 September 2017

author name string

Gaetan Lesca

1

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9 September 2017

Nadine Bruneau

3

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9 September 2017

Natalia Lozovaya

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9 September 2017

Audrey Labalme

5

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9 September 2017

Manal Salmi

7

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9 September 2017

Timur Tsintsadze

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9 September 2017

Jacques Motte

10

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9 September 2017

Vera Tsintsadze

12

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9 September 2017

Anne Michel

13

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9 September 2017

Diane Doummar

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9 September 2017

Karine Lascelles

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Lisa Strug

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Patrick Waters

17

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9 September 2017

Julitta de Bellescize

18

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Pascal Vrielynck

19

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9 September 2017

Anne de Saint Martin

20

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9 September 2017

Dorothee Ville

21

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9 September 2017

Alexis Arzimanoglou

23

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9 September 2017

Edouard Hirsch

24

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9 September 2017

Deb Pal

26

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9 September 2017

Nail Burnashev

27

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9 September 2017

Pierre Szepetowski

29

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9 September 2017

language of work or name

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publication date

11 August 2013

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9 September 2017

Nature Genetics

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9 September 2017

45

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9 September 2017

9

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9 September 2017

1061-1066

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9 September 2017

https://scigraph.springernature.com/pub.10.1038/ng.2726

0 references

The pathophysiological mechanisms of cognitive and behavioral disturbances in children with Landau-Kleffner syndrome or epilepsy with continuous spike-and-waves during slow-wave sleep

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Experience-dependent slow-wave sleep development

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Landau-Kleffner syndrome: 50 years after.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical rolandic epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SRPX2 mutations in disorders of language cortex and cognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-methyl-D-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutamate receptor ion channels: structure, regulation, and function

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum from BCECTS to LKS: The Rolandic EEG trait-impact on cognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-channel analysis of a point mutation of a conserved serine residue in the S2 ligand-binding domain of the NR2A NMDA receptor subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modal gating of NMDA receptors and the shape of their synaptic response.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Src kinases: a hub for NMDA receptor regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control of NMDA receptor function by the NR2 subunit amino-terminal domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CSWS-related autistic regression versus autistic regression without CSWS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anti-brain but not celiac disease antibodies in Landau-Kleffner syndrome and related epilepsies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign Epilepsy of Childhood With Rolandic Spikes: Typical and Atypical Variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subclinical "electrical status epilepticus" induced by sleep in children. A clinical and electroencephalographic study of six cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NMDA receptors in clinical neurology: excitatory times ahead

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndrome of acquired aphasia with convulsive disorder in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23933820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG.2726

7 January 2021

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inferred from DOI database lookup

Identifiers

10.1038/NG.2726

1 reference

Europe PubMed Central

PubMed publication ID

9 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 September 2017

ResearchGate publication ID

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