(Q47810400)

5 February 2018

title

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes (English)

1 reference

5 February 2018

1 reference

9

1 reference

5 February 2018

Laura Addis

24

1 reference

5 February 2018

Stefan Herms

59

1 reference

5 February 2018

Michael Nothnagel

Michael Nothnagel

5

0 references

Fritz Zimprich

Fritz Zimprich

68

0 references

Robert J. Harvey

Robert J Harvey

57

0 references

Peter Nürnberg

63

Peter Nürnberg

1 reference

5 February 2018

Gabriel M Ronen

54

0 references

Rikke S Møller

Rikke S Møller

22

0 references

Sarah Weckhuysen

19

Sarah Weckhuysen

1 reference

5 February 2018

35

Anna-Elina Lehesjoki

1 reference

5 February 2018

60

Janine Altmüller

1 reference

5 February 2018

Holger Thiele

62

Holger Thiele

1 reference

5 February 2018

Andre Franke

11

Andre Franke

1 reference

5 February 2018

Per Hoffmann

58

Per Hoffmann

1 reference

5 February 2018

Mohammad Reza Toliat

61

Mohammad R Toliat

1 reference

5 February 2018

Dennis Lal

2

Dennis Lal

1 reference

5 February 2018

Eva Reinthaler

3

Eva M Reinthaler

1 reference

5 February 2018

Hiltrud Muhle

14

Hiltrud Muhle

1 reference

5 February 2018

Rosa Guerrero López

32

Rosa Guerrero López

1 reference

5 February 2018

D Edda Haberlandt

46

D Edda Haberlandt

1 reference

5 February 2018

Martha Feucht

51

Martha Feucht

1 reference

5 February 2018

Hannelore Steinböck

52

Hannelore Steinböck

1 reference

5 February 2018

Ursula Gruber-Sedlmayr

55

Ursula Gruber-Sedlmayr

1 reference

5 February 2018

Julia Geldner

56

Julia Geldner

1 reference

5 February 2018

Holger Lerche

67

Holger Lerche

1 reference

5 February 2018

Bernd Neubauer

69

Bernd A Neubauer

1 reference

5 February 2018

Saskia Biskup

70

Saskia Biskup

1 reference

5 February 2018

author name string

Johannes R Lemke

1

1 reference

5 February 2018

Isabelle Steiner

4

1 reference

5 February 2018

Michael Alber

6

1 reference

5 February 2018

Kirsten Geider

7

1 reference

5 February 2018

Bodo Laube

8

1 reference

5 February 2018

Katrin Finsterwalder

10

1 reference

5 February 2018

Markus Schilhabel

12

1 reference

5 February 2018

Johanna A Jähn

13

1 reference

5 February 2018

Rainer Boor

15

1 reference

5 February 2018

Wim Van Paesschen

16

1 reference

5 February 2018

Roberto Caraballo

17

1 reference

5 February 2018

Natalio Fejerman

18

1 reference

5 February 2018

Peter De Jonghe

20

1 reference

5 February 2018

Jan Larsen

21

1 reference

5 February 2018

Helle Hjalgrim

23

1 reference

5 February 2018

Shan Tang

25

1 reference

5 February 2018

Elaine Hughes

26

1 reference

5 February 2018

Deb K Pal

27

1 reference

5 February 2018

Kadi Veri

28

1 reference

5 February 2018

Ulvi Vaher

29

1 reference

5 February 2018

Tiina Talvik

30

1 reference

5 February 2018

Petia Dimova

31

1 reference

5 February 2018

José M Serratosa

33

1 reference

5 February 2018

Tarja Linnankivi

34

1 reference

5 February 2018

Susanne Ruf

36

1 reference

5 February 2018

Markus Wolff

37

1 reference

5 February 2018

Sarah Buerki

38

1 reference

5 February 2018

Gabriele Wohlrab

39

1 reference

5 February 2018

Judith Kroell

40

1 reference

5 February 2018

Alexandre N Datta

41

1 reference

5 February 2018

Barbara Fiedler

42

1 reference

5 February 2018

Gerhard Kurlemann

43

1 reference

5 February 2018

Gerhard Kluger

44

1 reference

5 February 2018

Andreas Hahn

45

1 reference

5 February 2018

Christina Kutzer

47

1 reference

5 February 2018

Jürgen Sperner

48

1 reference

5 February 2018

Felicitas Becker

49

1 reference

5 February 2018

Yvonne G Weber

50

1 reference

5 February 2018

Birgit Neophythou

53

1 reference

5 February 2018

Christian Wilhelm

64

1 reference

5 February 2018

Ulrich Stephani

65

1 reference

5 February 2018

Ingo Helbig

66

1 reference

5 February 2018

Sarah von Spiczak

71

1 reference

5 February 2018

language of work or name

English

0 references

publication date

11 August 2013

1 reference

5 February 2018

published in

Nature Genetics

1 reference

5 February 2018

volume

45

1 reference

5 February 2018

issue

9

1 reference

5 February 2018

page(s)

1067-1072

1 reference

5 February 2018

https://scigraph.springernature.com/pub.10.1038/ng.2728

exact match

0 references

cites work

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

1 reference

12 December 2020

Typical semiology of benign childhood epilepsy with centrotemporal spikes (BCECTS).

1 reference

12 December 2020

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

1 reference

12 December 2020

Strategies for multilocus linkage analysis in humans

1 reference

12 December 2020

The SCN1A variant database: a novel research and diagnostic tool.

1 reference

12 December 2020

novoSNP, a novel computational tool for sequence variation discovery

1 reference

12 December 2020

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

1 reference

12 December 2020

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

12 December 2020

Thiol oxidation and altered NR2B/NMDA receptor functions in in vitro and in vivo pilocarpine models: implications for epileptogenesis.

1 reference

12 December 2020

Molecular basis of NMDA receptor functional diversity.

1 reference

12 December 2020

Assessment of clinically silent atherosclerotic disease and established and novel risk factors for predicting myocardial infarction and cardiac death in healthy middle-aged subjects: rationale and design of the Heinz Nixdorf RECALL Study. Risk Facto

1 reference

12 December 2020

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

1 reference

12 December 2020

Enhanced NMDA receptor-dependent thalamic excitation and network oscillations in stargazer mice

1 reference

12 December 2020

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

1 reference

12 December 2020

The spectrum of idiopathic Rolandic epilepsy syndromes and idiopathic occipital epilepsies: from the benign to the disabling

1 reference

12 December 2020

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

1 reference

12 December 2020

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

1 reference

12 December 2020

The genetics of Dravet syndrome.

1 reference

12 December 2020

A review of the relationships between Landau-Kleffner syndrome, electrical status epilepticus during sleep, and continuous spike-waves during sleep

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic deletion of NR3A accelerates glutamatergic synapse maturation

1 reference

12 December 2020

Misplaced NMDA receptors in epileptogenesis contribute to excitotoxicity

1 reference

12 December 2020

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

1 reference

12 December 2020

The tower of Babel: survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America

1 reference

12 December 2020

Glutamate receptor composition of the post-synaptic density is altered in genetic mouse models of NMDA receptor hypo- and hyperfunction

1 reference

12 December 2020

Changes in phosphorylation of the NMDA receptor in the rat hippocampus induced by status epilepticus

1 reference

12 December 2020

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

12 December 2020

Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration.

1 reference

12 December 2020

Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves

1 reference

12 December 2020

Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2728

1 reference

5 February 2018

Dimensions Publication ID

0 references

1 reference

5 February 2018