(Q55058460)

16 June 2018

title

A novel variant in GABRB2 associated with intellectual disability and epilepsy. (English)

1 reference

16 June 2018

main subject

intellectual disability

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disability affecting intellectual abilities

inferred from title

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Siddharth Srivastava

1

1 reference

16 June 2018

Julie Cohen

2

1 reference

16 June 2018

Jonathan Pevsner

3

1 reference

16 June 2018

Swaroop Aradhya

4

1 reference

16 June 2018

Dianalee McKnight

5

1 reference

16 June 2018

Elizabeth Butler

6

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16 June 2018

Michael Johnston

7

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16 June 2018

Ali Fatemi

8

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16 June 2018

language of work or name

English

0 references

publication date

13 August 2014

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

164A

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16 June 2018

issue

11

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16 June 2018

page(s)

2914-2921

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16 June 2018

De novo mutations in epileptic encephalopathies

cites work

1 reference

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Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

16 June 2018

1 reference

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mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

16 June 2018

1 reference

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

16 June 2018

1 reference

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Principles of activation and permeation in an anion-selective Cys-loop receptor

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Mutations in GABAA receptor subunits associated with genetic epilepsies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

16 June 2018

1 reference

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The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

16 June 2018

1 reference

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International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid(A) receptors: classification on the basis of subunit composition, pharmacology, and function. Update

16 June 2018

1 reference

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

GABA(A) receptor trafficking and its role in the dynamic modulation of neuronal inhibition

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

16 June 2018

1 reference

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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Evolution of GABA(A) receptor diversity in the human genome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Switch in the expression of rat GABAA-receptor subtypes during postnatal development: an immunohistochemical study

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Alpha5GABAA receptor activity sets the threshold for long-term potentiation and constrains hippocampus-dependent memory

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Enhanced learning and memory and altered GABAergic synaptic transmission in mice lacking the alpha 5 subunit of the GABAA receptor.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Loss of the major GABA(A) receptor subtype in the brain is not lethal in mice.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205182

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

13 August 2018

1 reference

12 December 2020

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

12 December 2020

A novel GABRG2 mutation associated with febrile seizures

1 reference

12 December 2020

The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36714

1 reference

16 June 2018

PMCID

4205182

1 reference

16 June 2018

PubMed ID

25124326

1 reference

16 June 2018