Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus (Q24632952)

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5 December 2019

case report

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title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748509%20AND%20SRC:MED&resulttype=core&format=json

generalized epilepsy with febrile seizures plus

5 December 2019

main subject

0 references

1 reference

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5 December 2019

1 reference

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5 December 2019

1 reference

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5 December 2019

1 reference

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5 December 2019

Leanne M Dibbens

2 references

ORCID Public Data File 2021

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5 December 2019

Louise A Harkin

1 reference

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5 December 2019

Rita Singh

1 reference

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5 December 2019

Fiona Phillips

1 reference

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5 December 2019

Michaella C Richards

1 reference

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5 December 2019

David A Williams

1 reference

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5 December 2019

John C Mulley

1 reference

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5 December 2019

Steven Petrou

1 reference

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5 December 2019

language of work or name

English

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publication date

17 December 2001

1 reference

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American Journal of Human Genetics

5 December 2019

published in

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5 December 2019

volume

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issue

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5 December 2019

page(s)

530-536

1 reference

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A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

5 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

7 April 2017

1 reference

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Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

International Union of Pharmacology. XV. Subtypes of gamma-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Functional and molecular distinction between recombinant rat GABAA receptor subtypes by Zn2+

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Analysis of GABAA receptor assembly in mammalian cell lines and hippocampal neurons using gamma 2 subunit green fluorescent protein chimeras.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

GABA receptor function and epilepsy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Assembly and cell surface expression of heteromeric and homomeric gamma-aminobutyric acid type A receptors.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

The N-terminal domains of acetylcholine receptor subunits contain recognition signals for the initial steps of receptor assembly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

Electrophysiologic recordings from Xenopus oocytes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384926

GABA synapses enter the molecular big time

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11748509

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11748509

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GABA(A) receptor assembly. Identification and structure of gamma(2) sequences forming the intersubunit contacts with alpha(1) and beta(3) subunits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11748509

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/338710

2 references

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5 December 2019

1 reference

2 references

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5 December 2019

PubMed publication ID

11748509

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748509%20AND%20SRC:MED&resulttype=core&format=json