A novel variant in GABRB2 associated with intellectual disability and epilepsy. (Q55058460)

16 June 2018

title

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

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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

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16 June 2018

Julie Cohen

2

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16 June 2018

Jonathan Pevsner

3

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16 June 2018

Swaroop Aradhya

4

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16 June 2018

Dianalee McKnight

5

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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

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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

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

16 June 2018

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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

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

16 June 2018

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16 June 2018

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16 June 2018

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

16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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

16 June 2018

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

16 June 2018

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

16 June 2018

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

16 June 2018

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

16 June 2018

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

16 June 2018

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

13 August 2018

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

13 August 2018

1 reference

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

13 August 2018

1 reference

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

13 August 2018

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

13 August 2018

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

13 August 2018

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12 December 2020

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

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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 α6β2γ2 and α6β2δ GABAA receptor channel gating and expression

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36714

1 reference

16 June 2018

PMC publication ID

4205182

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16 June 2018

PubMed publication ID

25124326

1 reference

16 June 2018