(Q48304242)

10 February 2018

title

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes (English)

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10 February 2018

author

Jochen C. Meier

30

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10 February 2018

Fritz Zimprich

33

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10 February 2018

Michael Nothnagel

Michael Nothnagel

27

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Peter Nürnberg

25

Peter Nürnberg

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10 February 2018

Cornelia M. van Duijn

18

Cornelia M van Duijn

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10 February 2018

20

Albert Hofman

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10 February 2018

André Uitterlinden

19

Andre G Uitterlinden

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10 February 2018

Janine Altmüller

21

Janine Altmüller

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10 February 2018

Holger Thiele

28

Holger Thiele

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10 February 2018

Gabriel M Ronen

12

Gabriel M Ronen

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10 February 2018

M. Arfan Ikram

17

M Arfan Ikram

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10 February 2018

Mohammad Reza Toliat

23

Mohammad R Toliat

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10 February 2018

Dennis Lal

3

Dennis Lal

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10 February 2018

Eva Reinthaler

1

Eva M Reinthaler

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10 February 2018

Hiltrud Muhle

16

Hiltrud Muhle

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10 February 2018

D Edda Haberlandt

15

Edda Haberlandt

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10 February 2018

Martha Feucht

9

Martha Feucht

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10 February 2018

Hannelore Steinböck

10

Hannelore Steinböck

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10 February 2018

Ursula Gruber-Sedlmayr

11

Ursula Gruber-Sedlmayr

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10 February 2018

Julia Geldner

14

Julia Geldner

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10 February 2018

Holger Lerche

26

Holger Lerche

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10 February 2018

Bernd Neubauer

32

Bernd A Neubauer

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10 February 2018

Birgit Neophytou

13

Birgit Neophytou

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10 February 2018

EuroEPINOMICS Consortium

24

EuroEPINOMICS Consortium

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10 February 2018

author name string

Borislav Dejanovic

2

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10 February 2018

Marcus Semtner

4

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10 February 2018

Yvonne Merkler

5

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10 February 2018

Annika Reinhold

6

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10 February 2018

Dorothea A Pittrich

7

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10 February 2018

Christoph Hotzy

8

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10 February 2018

Amit Kawalia

22

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10 February 2018

Thomas Sander

29

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10 February 2018

Günter Schwarz

31

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10 February 2018

publication date

28 March 2015

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10 February 2018

published in

Annals of Neurology

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10 February 2018

volume

77

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10 February 2018

issue

6

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10 February 2018

page(s)

972-986

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10 February 2018

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

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Benign childhood focal epilepsies

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The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes

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Attention impairment in rolandic epilepsy: systematic review

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders

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DEPDC5 mutations in genetic focal epilepsies of childhood.

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RBFOX1 and RBFOX3 mutations in rolandic epilepsy

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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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Changes in neural network homeostasis trigger neuropsychiatric symptoms

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Presynaptic mechanisms of neuronal plasticity and their role in epilepsy

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GABAA receptor trafficking-mediated plasticity of inhibitory synapses

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GABA(A) receptors in normal development and seizures: friends or foes?

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De novo mutations in epileptic encephalopathies

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The gamma 2 subunit of GABA(A) receptors is required for maintenance of receptors at mature synapses.

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Neuronal nitric oxide synthase-dependent S-nitrosylation of gephyrin regulates gephyrin clustering at GABAergic synapses.

21 January 2018

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

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Atypical "benign" partial epilepsy or pseudo-Lennox syndrome. Part I: symptomatology and long-term prognosis

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The Rotterdam Study: 2012 objectives and design update

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A polygenic burden of rare disruptive mutations in schizophrenia

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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

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dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

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Gephyrin regulates the cell surface dynamics of synaptic GABAA receptors.

21 January 2018

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Palmitoylation of gephyrin controls receptor clustering and plasticity of GABAergic synapses

21 January 2018

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Identification of PSD-95 palmitoylating enzymes

21 January 2018

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Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

21 January 2018

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Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

21 January 2018

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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

21 January 2018

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Crystal structure of a human GABAA receptor

21 January 2018

1 reference

The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.

21 January 2018

1 reference

The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ

21 January 2018

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GODZ-mediated palmitoylation of GABA(A) receptors is required for normal assembly and function of GABAergic inhibitory synapses

21 January 2018

1 reference

Synaptic, transcriptional and chromatin genes disrupted in autism

21 January 2018

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A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

21 January 2018

1 reference

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

21 January 2018

1 reference

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

21 January 2018

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Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

21 January 2018

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Analysis of genetically complex epilepsies.

21 January 2018

1 reference

Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.

21 January 2018

1 reference

Single channel properties of recombinant GABAA receptors containing gamma 2 or delta subtypes expressed with alpha 1 and beta 3 subtypes in mouse L929 cells

21 January 2018

1 reference

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin

21 January 2018

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Disruption of postsynaptic GABA receptor clusters leads to decreased GABAergic innervation of pyramidal neurons

21 January 2018

1 reference

Palmitoylation regulates the clustering and cell surface stability of GABAA receptors

21 January 2018

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Diversity of inhibitory neurotransmission through GABA(A) receptors

21 January 2018

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Multiple molecular mechanisms for a single GABAA mutation in epilepsy

21 January 2018

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21 January 2018

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GABAergic control of critical developmental periods for anxiety- and depression-related behavior in mice

21 January 2018

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The biology of epilepsy genes

21 January 2018

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Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.

21 January 2018

1 reference

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24395

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10 February 2018

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10 February 2018