GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. (Q47879364)

http://europepmc.org/abstract/MED/28856709

6 February 2018

title

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. (English)

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http://europepmc.org/abstract/MED/28856709

6 February 2018

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5

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11 June 2020

Seok-Geun Lee

27

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11 June 2020

Murim Choi

35

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11 June 2020

author name string

Yongjin Yoo

1

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11 June 2020

Jane Jung

2

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11 June 2020

Yoo-Na Lee

3

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11 June 2020

Youngha Lee

4

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11 June 2020

Eunjung Na

6

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11 June 2020

JeaYeok Hong

7

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11 June 2020

Eunjin Kim

8

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11 June 2020

Jin Sook Lee

9

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11 June 2020

Je Sang Lee

10

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11 June 2020

Chansik Hong

11

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11 June 2020

Sang-Yoon Park

12

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11 June 2020

Jinhong Wie

13

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11 June 2020

Kathryn Miller

14

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11 June 2020

Natasha Shur

15

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11 June 2020

Cheryl Clow

16

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11 June 2020

Roseànne S Ebel

17

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11 June 2020

Suzanne D DeBrosse

18

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11 June 2020

Lindsay B Henderson

19

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11 June 2020

Rebecca Willaert

20

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11 June 2020

Christopher Castaldi

21

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11 June 2020

Irina Tikhonova

22

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11 June 2020

Kaya Bilgüvar

23

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11 June 2020

Shrikant Mane

24

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11 June 2020

Ki Joong Kim

25

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11 June 2020

Yong Seung Hwang

26

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11 June 2020

Insuk So

28

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11 June 2020

Byung Chan Lim

29

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11 June 2020

Hee-Jung Choi

30

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11 June 2020

Jae Young Seong

31

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11 June 2020

Yong Beom Shin

32

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11 June 2020

Hosung Jung

33

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11 June 2020

Jong-Hee Chae

34

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11 June 2020

publication date

30 August 2017

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http://europepmc.org/abstract/MED/28856709

6 February 2018

published in

Annals of Neurology

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11 June 2020

volume

82

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11 June 2020

page(s)

466-478

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11 June 2020

issue

3

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Rett syndrome: revised diagnostic criteria and nomenclature

11 June 2020

cites work

1 reference

Rett syndrome: Criteria for inclusion and exclusion

21 January 2018

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

21 January 2018

1 reference

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

21 January 2018

1 reference

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.

21 January 2018

1 reference

The Rett syndrome protein MeCP2 regulates synaptic scaling

21 January 2018

1 reference

A critical and cell-autonomous role for MeCP2 in synaptic scaling up

21 January 2018

1 reference

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

21 January 2018

1 reference

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

21 January 2018

1 reference

Clinical review of genetic epileptic encephalopathies

21 January 2018

1 reference

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

21 January 2018

1 reference

Dravet syndrome--from epileptic encephalopathy to channelopathy

21 January 2018

1 reference

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

21 January 2018

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De novo mutations in epileptic encephalopathies

21 January 2018

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Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

21 January 2018

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Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?

21 January 2018

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

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The story of Rett syndrome: from clinic to neurobiology

21 January 2018

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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De novo mutations in histone-modifying genes in congenital heart disease.

21 January 2018

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Coevolution of the spexin/galanin/kisspeptin family: Spexin activates galanin receptor type II and III

21 January 2018

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

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Analysis of gene expression in Ca2+-dependent activator protein for secretion 2 (Cadps2) knockout cerebellum using GeneChip and KEGG pathways.

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Human GRIN2B variants in neurodevelopmental disorders

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Identification of novel genetic causes of Rett syndrome-like phenotypes.

21 January 2018

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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

21 January 2018

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GABA(B)-receptor subtypes assemble into functional heteromeric complexes.

21 January 2018

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Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domain

21 January 2018

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Structure of a class C GPCR metabotropic glutamate receptor 1 bound to an allosteric modulator

21 January 2018

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Impact of the DRY motif and the missing "ionic lock" on constitutive activity and G-protein coupling of the human histamine H4 receptor

21 January 2018

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Conformational complexity of G-protein-coupled receptors

21 January 2018

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Structure, function, and modulation of GABA(A) receptors

21 January 2018

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The contribution of GABAergic dysfunction to neurodevelopmental disorders

21 January 2018

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G protein-coupled inwardly rectifying K+ channels (GIRKs) mediate postsynaptic but not presynaptic transmitter actions in hippocampal neurons

21 January 2018

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Kinetics of GABAB receptor-mediated inhibition of calcium currents and excitatory synaptic transmission in hippocampal neurons in vitro.

21 January 2018

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Substitution of three amino acids switches receptor specificity of Gq alpha to that of Gi alpha

21 January 2018

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Point mutations in either subunit of the GABAB receptor confer constitutive activity to the heterodimer

21 January 2018

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A neuroprotective role for polyamines in a Xenopus tadpole model of epilepsy.

21 January 2018

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Modeling human neurodevelopmental disorders in the Xenopus tadpole: from mechanisms to therapeutic targets

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

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21 January 2018

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21 January 2018

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Differential effects of GABAB receptor subtypes, {gamma}-hydroxybutyric Acid, and Baclofen on EEG activity and sleep regulation

21 January 2018

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GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism

21 January 2018

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Allosteric modulators of GPCRs: a novel approach for the treatment of CNS disorders

21 January 2018

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Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

21 January 2018

1 reference

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

21 January 2018

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Direct interaction and functional coupling between voltage-gated CaV1.3 Ca2+ channel and GABAB receptor subunit 2

21 January 2018

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Identifiers

DOI

10.1002/ANA.25032

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28856709%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference