Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (Q47810400)

5 February 2018

title

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

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Laura Addis

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Stefan Herms

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Michael Nothnagel

Michael Nothnagel

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Fritz Zimprich

Fritz Zimprich

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Robert J. Harvey

Robert J Harvey

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Peter Nürnberg

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Peter Nürnberg

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Gabriel M Ronen

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Rikke S Møller

Rikke S Møller

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Sarah Weckhuysen

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Sarah Weckhuysen

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Anna-Elina Lehesjoki

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Janine Altmüller

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Holger Thiele

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Holger Thiele

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Andre Franke

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Andre Franke

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Per Hoffmann

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Per Hoffmann

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Mohammad Reza Toliat

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Mohammad R Toliat

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Dennis Lal

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Dennis Lal

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Eva Reinthaler

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Eva M Reinthaler

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Hiltrud Muhle

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Hiltrud Muhle

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Rosa Guerrero López

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Rosa Guerrero López

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D Edda Haberlandt

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D Edda Haberlandt

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Martha Feucht

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Martha Feucht

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Hannelore Steinböck

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Hannelore Steinböck

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Ursula Gruber-Sedlmayr

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Ursula Gruber-Sedlmayr

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Julia Geldner

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Julia Geldner

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Holger Lerche

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Holger Lerche

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Bernd Neubauer

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Bernd A Neubauer

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Saskia Biskup

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author name string

Johannes R Lemke

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Isabelle Steiner

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Michael Alber

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Kirsten Geider

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Bodo Laube

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Katrin Finsterwalder

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Markus Schilhabel

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Johanna A Jähn

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Rainer Boor

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Wim Van Paesschen

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Roberto Caraballo

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Natalio Fejerman

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Peter De Jonghe

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Jan Larsen

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Helle Hjalgrim

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Shan Tang

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Elaine Hughes

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Deb K Pal

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Kadi Veri

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Ulvi Vaher

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Tiina Talvik

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Petia Dimova

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José M Serratosa

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Tarja Linnankivi

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Susanne Ruf

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Markus Wolff

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Sarah Buerki

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Gabriele Wohlrab

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Judith Kroell

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Alexandre N Datta

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Barbara Fiedler

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Gerhard Kurlemann

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Gerhard Kluger

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Andreas Hahn

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Christina Kutzer

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Jürgen Sperner

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Felicitas Becker

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Yvonne G Weber

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Birgit Neophythou

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Christian Wilhelm

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Ulrich Stephani

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Ingo Helbig

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Sarah von Spiczak

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language of work or name

English

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publication date

11 August 2013

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5 February 2018

published in

Nature Genetics

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volume

45

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page(s)

1067-1072

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issue

9

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

exact match

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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

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12 December 2020

Identifiers

DOI

10.1038/NG.2728

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5 February 2018

Dimensions Publication ID

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5 February 2018