GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. (Q41455841)

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2 March 2020

title

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy (English)

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2 March 2020

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2 March 2020

Apostolos Papandreou

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2 March 2020

Natalie Trump

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2 March 2020

Gautam Ambegaonkar

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2 March 2020

Adeline Ngoh

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2 March 2020

Esther Meyer

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2 March 2020

Richard H Scott

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2 March 2020

Manju A Kurian

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2 March 2020

publication date

9 December 2015

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Developmental Medicine and Child Neurology

2 March 2020

published in

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2 March 2020

volume

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2 March 2020

issue

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2 March 2020

page(s)

416-420

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

2 March 2020

cites work

1 reference

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De novo mutations in moderate or severe intellectual disability

30 September 2017

1 reference

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Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

30 September 2017

1 reference

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Crystal structure of a human GABAA receptor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

De novo mutations in epileptic encephalopathies

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

Mutations in GABAA receptor subunits associated with genetic epilepsies

30 September 2017

1 reference

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

30 September 2017

1 reference

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

30 September 2017

1 reference

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Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

30 September 2017

GABAA receptor channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

Diuretic soothes seizures in newborns

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

Forced subunit assembly in alpha1beta2gamma2 GABAA receptors. Insight into the absolute arrangement

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4864756

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26645412

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/DMCN.12976

1 reference

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2 March 2020

1 reference

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2 March 2020

PubMed publication ID

26645412

1 reference

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