(Q38854549)

4 November 2017

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects (English)

1 reference

4 November 2017

9

1 reference

7 September 2017

50

Anna-Elina Lehesjoki

0 references

John A Lawson

John A Lawson

45

0 references

John J. Millichap

John J Millichap

34

0 references

Uffe Birk Jensen

Uffe B Jensen

33

0 references

Eirik Frengen

Eirik Frengen

17

0 references

Ingrid Scheffer

27

Ingrid E Scheffer

1 reference

4 November 2017

Henrike O Heyne

8

0 references

Rami Abou Jamra

Rami Abou Jamra

42

0 references

Rikke S Møller

Rikke S Møller

32

0 references

Lynette Sadleir

26

Lynette Sadleir

1 reference

4 November 2017

72

William B Dobyns

1 reference

4 November 2017

22

Heather C Mefford

1 reference

4 November 2017

35

Anne T Berg

1 reference

4 November 2017

44

Richard J Leventer

1 reference

4 November 2017

28

Eva Brilstra

1 reference

4 November 2017

14

Christel Depienne

1 reference

4 November 2017

15

Boris Keren

1 reference

4 November 2017

23

Candace T Myers

1 reference

4 November 2017

Konrad Platzer

1

1 reference

4 November 2017

Hongjie Yuan

2

1 reference

4 November 2017

Hannah Schütz

3

1 reference

4 November 2017

Alexander Winschel

4

1 reference

4 November 2017

Wenjuan Chen

5

1 reference

4 November 2017

Chun Hu

6

1 reference

4 November 2017

Hirofumi Kusumoto

7

1 reference

4 November 2017

Sha Tang

10

1 reference

4 November 2017

Marcia C Willing

11

1 reference

4 November 2017

Brad T Tinkle

12

1 reference

4 November 2017

Darius J Adams

13

1 reference

4 November 2017

Cyril Mignot

16

1 reference

4 November 2017

Petter Strømme

18

1 reference

4 November 2017

Saskia Biskup

19

1 reference

4 November 2017

Dennis Döcker

20

1 reference

4 November 2017

Tim M Strom

21

1 reference

4 November 2017

Alison M Muir

24

1 reference

4 November 2017

Amy LaCroix

25

1 reference

4 November 2017

Mieke M van Haelst

29

1 reference

4 November 2017

Jasper J van der Smagt

30

1 reference

4 November 2017

Levinus A Bok

31

1 reference

4 November 2017

Ethan M Goldberg

36

1 reference

4 November 2017

Isabelle De Bie

37

1 reference

4 November 2017

Stephanie Fox

38

1 reference

4 November 2017

Philippe Major

39

1 reference

4 November 2017

Julie R Jones

40

1 reference

4 November 2017

Elaine H Zackai

41

1 reference

4 November 2017

Arndt Rolfs

43

1 reference

4 November 2017

Tony Roscioli

46

1 reference

4 November 2017

Floor E Jansen

47

1 reference

4 November 2017

Emmanuelle Ranza

48

1 reference

4 November 2017

Christian M Korff

49

1 reference

4 November 2017

Carolina Courage

51

1 reference

4 November 2017

Tarja Linnankivi

52

1 reference

4 November 2017

Douglas R Smith

53

1 reference

4 November 2017

Christine Stanley

54

1 reference

4 November 2017

Mark Mintz

55

1 reference

4 November 2017

Dianalee McKnight

56

1 reference

4 November 2017

Amy Decker

57

1 reference

4 November 2017

Wen-Hann Tan

58

1 reference

4 November 2017

Mark A Tarnopolsky

59

1 reference

4 November 2017

Lauren I Brady

60

1 reference

4 November 2017

Markus Wolff

61

1 reference

4 November 2017

Lutz Dondit

62

1 reference

4 November 2017

Helio F Pedro

63

1 reference

4 November 2017

Sarah E Parisotto

64

1 reference

4 November 2017

Kelly L Jones

65

1 reference

4 November 2017

Anup D Patel

66

1 reference

4 November 2017

David N Franz

67

1 reference

4 November 2017

Rena Vanzo

68

1 reference

4 November 2017

Elysa Marco

69

1 reference

4 November 2017

Judith D Ranells

70

1 reference

4 November 2017

Nataliya Di Donato

71

1 reference

4 November 2017

Bodo Laube

73

1 reference

4 November 2017

Stephen F Traynelis

74

1 reference

4 November 2017

Johannes R Lemke

75

1 reference

4 November 2017

language of work or name

English

0 references

publication date

4 April 2017

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

54

1 reference

4 November 2017

7

1 reference

4 November 2017

460-470

1 reference

Prevalence and architecture of de novo mutations in developmental disorders

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Human GRIN2B variants in neurodevelopmental disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Analysis of protein-coding genetic variation in 60,706 humans

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Clinical application of whole-exome sequencing across clinical indications

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

NMDA receptor subunit mutations in neurodevelopmental disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

De novo mutations in moderate or severe intellectual disability

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Co-occurring malformations of cortical development and SCN1A gene mutations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Organizing principles of mammalian nonsense-mediated mRNA decay

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Integrative mechanisms of oriented neuronal migration in the developing brain

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

De novo mutations in epileptic encephalopathies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Structural Determinants of Agonist Efficacy at the Glutamate Binding Site of N-Methyl-D-Aspartate Receptors

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Molecular pharmacology of human NMDA receptors

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Glutamate receptor ion channels: structure, regulation, and function

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Paradigm shift in NMDA receptor antagonist drug development: molecular mechanism of uncompetitive inhibition by memantine in the treatment of Alzheimer's disease and other neurologic disorders.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Diagnostic exome sequencing in persons with severe intellectual disability

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

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

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Malformations of cortical development and epilepsy

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5656050

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

1 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28377535

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-104509

1 reference

release_gnbswb43sjhi7aoilmktukpo3a

4 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gnbswb43sjhi7aoilmktukpo3a

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

4 November 2017

1 reference