Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. (Q40484937)

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

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17 January 2020

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

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Europe PubMed Central

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17 January 2020

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Jing-Qiong Kang

1

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17 January 2020

Wangzhen Shen

2

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17 January 2020

Robert L Macdonald

3

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17 January 2020

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1 March 2006

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17 January 2020

Journal of Neuroscience

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17 January 2020

26

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17 January 2020

9

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17 January 2020

2590-2597

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17 January 2020

GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Subcellular localization and endocytosis of homomeric gamma2 subunit splice variants of gamma-aminobutyric acid type A receptors.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Temperature dependence of intrinsic membrane properties and synaptic potentials in hippocampal CA1 neurons in vitro.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Recruitment of functional GABAA receptors to postsynaptic domains by insulin

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https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

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inferred from PubMed ID database lookup

The prevalence and incidence of convulsive disorders in children

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https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

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https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced expression of a specific hyperpolarization-activated cyclic nucleotide-gated cation channel (HCN) in surviving dentate gyrus granule cells of human and experimental epileptic hippocampus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Interleukin-1beta contributes to the generation of experimental febrile seizures

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https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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GABA(A) receptor epilepsy mutations

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https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Biosynthesis and degradation of CFTR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

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Erythropoietin prevents early and late neuronal demise through modulation of Akt1 and induction of caspase 1, 3, and 8.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex segregation analysis of febrile convulsions

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strong effects of subphysiological temperature on the function and plasticity of mammalian presynaptic terminals.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct gamma2 subunit domains mediate clustering and synaptic function of postsynaptic GABAA receptors and gephyrin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Delta F508 mutation shortens the biochemical half-life of plasma membrane CFTR in polarized epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Endogenous neuropeptide Y prevents recurrence of experimental febrile seizures by increasing seizure threshold

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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The gamma 2 subunit of GABA(A) receptors is required for maintenance of receptors at mature synapses.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Fever, genes, and epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Palmitoylation regulates the clustering and cell surface stability of GABAA receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synaptic transmission in the neocortex during reversible cooling

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16510738

12 December 2020

based on heuristic

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Identifiers

10.1523/JNEUROSCI.4243-05.2006

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16510738 AND SRC:MED&resulttype=core&format=json

17 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16510738 AND SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16510738 AND SRC:MED&resulttype=core&format=json

17 January 2020

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