(Q36719106)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18514161%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy (English)

1 reference

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8 January 2020

3

1 reference

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8 January 2020

Reyna M Duron

6

1 reference

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8 January 2020

Iris E Martínez-Juárez

8

1 reference

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8 January 2020

Aurelio Jara-Prado

15

1 reference

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Antonio V Delgado-Escueta

8 January 2020

18

1 reference

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8 January 2020

author name string

Miyabi Tanaka

1

1 reference

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8 January 2020

Richard W Olsen

2

1 reference

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8 January 2020

Emily Schwartz

4

1 reference

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8 January 2020

Maria Elisa Alonso

5

1 reference

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8 January 2020

Ramon Castro-Ortega

7

1 reference

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8 January 2020

Ignacio Pascual-Castroviejo

9

1 reference

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8 January 2020

Jesus Machado-Salas

10

1 reference

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8 January 2020

Rene Silva

11

1 reference

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8 January 2020

Julia N Bailey

12

1 reference

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8 January 2020

Dongsheng Bai

13

1 reference

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8 January 2020

Adriana Ochoa

14

1 reference

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8 January 2020

Gregorio Pineda

16

1 reference

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8 January 2020

Robert L Macdonald

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18514161%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

language of work or name

English

0 references

publication date

1 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18514161%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 January 2020

published in

1 reference

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8 January 2020

volume

82

1 reference

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8 January 2020

issue

6

1 reference

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8 January 2020

page(s)

1249-1261

1 reference

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describes a project that uses

8 January 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2427288/fullTextXML

inferred from PubMed Central ID database lookup

cites work

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

1 reference

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Genes and loci involved in febrile seizures and related epilepsy syndromes

30 September 2017

1 reference

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Sleep, epilepsy and thalamic reticular inhibitory neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

GABA(A) receptor epilepsy mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Drug interactions at 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=2427288

Childhood absence epilepsy: genes, channels, neurons and networks.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Identification of amino acid residues within GABA(A) receptor beta subunits that mediate both homomeric and heteromeric receptor expression.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

The dolichol pathway of N-linked glycosylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Sites of alcohol and volatile anaesthetic action on GABA(A) and glycine receptors.

30 September 2017

1 reference

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Expression of functional GABAA receptors in transfected L929 cells isolated by immunomagnetic bead separation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Structure and organization of GABRB3 and GABRA5.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Which GABAA-receptor subtypes really occur in the brain?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Site-directed mutagenesis of N-linked glycosylation sites on the gamma-aminobutyric acid type A receptor alpha 1 subunit

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Functional domains of GABAA 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=2427288

Computer-simulation methods in human linkage analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

30 September 2017

1 reference

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Molecular biology of GABAA 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=2427288

Indices of neural function in autism: clinical and biologic implications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Autistic children: diagnosis and clinical features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Gamma-aminobutyric acidA receptor structure and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

N-glycans as apical sorting signals in epithelial cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

GABA(A) receptors: immunocytochemical distribution of 13 subunits in the adult rat brain.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Angelman syndrome: correlations between epilepsy phenotypes and genotypes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

The prognosis of petit mal.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Expressed cerebellar-type inositol 1,4,5-trisphosphate receptor, P400, has calcium release activity in a fibroblast L cell line

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Different postnatal ontogenic profiles of neurons containing β (β1, β2 and β3) subunit mRNAs of GABAA receptor in the rat thalamus

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Different postnatal development profiles of neurons containing distinct GABAA receptor beta subunit mRNAs (beta 1, beta 2, and beta 3) in the rat forebrain

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

The distribution of thirteen GABAA receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

The distribution of 13 GABAA receptor subunit mRNAs in the rat brain. II. Olfactory bulb and cerebellum.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Identification of a GABAA receptor anesthetic binding site at subunit interfaces by photolabeling with an etomidate analog.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Autism and epilepsy: cause, consequence, comorbidity, or coincidence?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Reciprocal inhibitory connections and network synchrony in the mammalian thalamus

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

Valproic acid treatment of epilepsy in autistic twins.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

The Human γ-Aminobutyric Acid Receptor Subunit β3 and α5 Gene Cluster in Chromosome 15q11-q13 Is Rich in Highly Polymorphic (CA)n Repeats

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427288

How well can epilepsy syndromes be identified at diagnosis? A reassessment 2 years after initial diagnosis

4 December 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 search for hyperglycosylation signals in yeast glycoproteins

1 reference

12 December 2020

Childhood epilepsy of subcortical ("centrencephalic") origin. Some questions and answers for the pediatrician

1 reference

12 December 2020

1 reference

12 December 2020

Familial occurrence of epilepsy in children with newly diagnosed multiple seizures: Dutch Study of Epilepsy in Childhood

1 reference

12 December 2020

Possible association between childhood absence epilepsy and the gene encoding GABRB3

1 reference

12 December 2020

Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy

1 reference

12 December 2020

Is the centrencephalic EEG inherited as a dominant?

1 reference

12 December 2020

PROGNOSIS OF "PURE" PETIT MAL; A FOLLOW-UP STUDY

1 reference

12 December 2020

THE CLINICAL, ELECTROENCEPHALOGRAPHIC AND SOCIAL PROGNOSIS IN PETIT MAL EPILEPSY

1 reference

12 December 2020

10.1016/J.AJHG.2008.04.020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18514161%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18514161%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

18514161

1 reference