(Q42607120)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

2

1 reference

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6 February 2020

Derek Bowie

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

11

Patrick Cossette

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Pamela Lachance-Touchette

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Caroline Meloche

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Peter Kinirons

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Line Lapointe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Hélène Lacasse

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Anne Lortie

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Fiona Bedford

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Lionel Carmant

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

30 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Neuroscience

6 February 2020

published in

1 reference

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6 February 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

2

1 reference

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6 February 2020

page(s)

237-249

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21714819%20AND%20SRC:MED&resulttype=core&format=json

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

6 February 2020

cites work

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Seizures beget seizures: the quest for GABA as a key player

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Effects of gamma2S subunit incorporation on GABAA receptor macroscopic kinetics

21 January 2018

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External anions and cations distinguish between AMPA and kainate receptor gating mechanisms

21 January 2018

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Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

21 January 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

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NaV1.1 channels and epilepsy

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Multiphasic desensitization of the GABAA receptor in outside-out patches

21 January 2018

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Developmental impact of a familial GABAA receptor epilepsy mutation

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Comparative models of GABAA receptor extracellular and transmembrane domains: important insights in pharmacology and function.

21 January 2018

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Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin

21 January 2018

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Predictive identification of exonic splicing enhancers in human genes

21 January 2018

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Mutations affecting GABAergic signaling in seizures and epilepsy

21 January 2018

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21 January 2018

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Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

21 January 2018

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

21 January 2018

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Navigating the channels and beyond: unravelling the genetics of the epilepsies

21 January 2018

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Zinc-mediated inhibition of GABA(A) receptors: discrete binding sites underlie subtype specificity

21 January 2018

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The impact of receptor desensitization on fast synaptic transmission

21 January 2018

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

21 January 2018

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Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.

21 January 2018

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Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X

21 January 2018

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Alternative splicing and evolution: diversification, exon definition and function

21 January 2018

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Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

21 January 2018

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Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

21 January 2018

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Neurological channelopathies: new insights into disease mechanisms and ion channel function

21 January 2018

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Modes and models of GABA(A) receptor gating

21 January 2018

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Mutations in GABAA receptor subunits associated with genetic epilepsies

21 January 2018

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The role of GABAA receptor biogenesis, structure and function in epilepsy.

21 January 2018

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Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

21 January 2018

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21 January 2018

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21 January 2018

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BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

21 January 2018

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Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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