Childhood absence epilepsy: genes, channels, neurons and networks. (Q30835420)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11988776%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

review article

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title

Childhood absence epilepsy: genes, channels, neurons and networks (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11988776%20AND%20SRC:MED&resulttype=core&format=json

childhood absence epilepsy

10 December 2019

main subject

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1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11988776%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Nathalie Leresche

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11988776%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

Vincenzo Crunelli

series ordinal

1

1 reference

27 June 2017

language of work or name

English

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publication date

1 May 2002

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Nature Reviews Neuroscience

10 December 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11988776%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

3

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10 December 2019

page(s)

371-382

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10 December 2019

issue

5

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Generalized epileptic disorders: an update

10 December 2019

cites work

1 reference

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

21 January 2018

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Treatment of typical absence seizures and related epileptic syndromes

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Concepts of absence epilepsies: discrete syndromes or biological continuum?

21 January 2018

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21 January 2018

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21 January 2018

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Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes.

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In vivo demonstration of altered benzodiazepine receptor density in patients with generalised epilepsy

21 January 2018

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KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy

21 January 2018

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Genetics of childhood epilepsy

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Ion channels and epilepsy in man and mouse

21 January 2018

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

21 January 2018

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

21 January 2018

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Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5.

21 January 2018

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Possible association between childhood absence epilepsy and the gene encoding GABRB3

21 January 2018

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Reciprocal inhibitory connections and network synchrony in the mammalian thalamus.

21 January 2018

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A role for GABAB receptors in excitation and inhibition of thalamocortical cells.

21 January 2018

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Pathophysiological mechanisms of genetic absence epilepsy in the rat.

21 January 2018

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Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy

21 January 2018

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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

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Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

21 January 2018

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The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy

21 January 2018

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Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy

21 January 2018

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Anatomical and functional aspects of mu opioid receptors in epileptic WAG/Rij rats

21 January 2018

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Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity

21 January 2018

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

21 January 2018

1 reference

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

21 January 2018

1 reference

T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients

21 January 2018

1 reference

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.

21 January 2018

1 reference

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.

21 January 2018

1 reference

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

Detecting genes in new and old mouse models for epilepsy: a prospectus through the magnifying glass

21 January 2018

1 reference

Single gene defects in mice: the role of voltage-dependent calcium channels in absence models

21 January 2018

1 reference

Block of Thalamic T-Type Ca(2+) Channels by Ethosuximide Is Not the Whole Story.

21 January 2018

1 reference

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 January 2018

1 reference

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.

21 January 2018

1 reference

Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms

21 January 2018

1 reference

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

21 January 2018

1 reference

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

21 January 2018

1 reference

Genetic models of absence epilepsy, with emphasis on the WAG/Rij strain of rats

21 January 2018

1 reference

Optimisation of methods for selecting candidate genes from cDNA array screens: application to rat brain punches and pineal.

21 January 2018

1 reference

Generalized epilepsy: some of its cellular mechanisms differ from those of focal epilepsy

21 January 2018

1 reference

Epileptic seizures and sleep-wake rhythm.

21 January 2018

1 reference

Thalamocortical oscillations in the sleeping and aroused brain

21 January 2018

1 reference

Intracellular recordings in thalamic neurones during spontaneous spike and wave discharges in rats with absence epilepsy.

21 January 2018

1 reference

A study of thalamic and cortical rhythms in petit mal.

21 January 2018

1 reference

Basic mechanisms of generalized absence seizures

21 January 2018

1 reference

Ictal single photon emission computed tomography in absence seizures: apparent implication of different neuronal mechanisms

21 January 2018

1 reference

Intracellular recordings in pericruciate neurons during spike and wave discharges of feline generalized penicillin epilepsy

21 January 2018

1 reference

Low-voltage-activated calcium channel subunit expression in a genetic model of absence epilepsy in the rat.

21 January 2018

1 reference

Role of the thalamus in generalized penicillin epilepsy: observations on decorticated cats.

21 January 2018

1 reference

Cortical versus thalamic mechanisms underlying spike and wave discharges in GAERS.

21 January 2018

1 reference

Differences in quantal amplitude reflect GluR4- subunit number at corticothalamic synapses on two populations of thalamic neurons

21 January 2018

1 reference

Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2+) channels

21 January 2018

1 reference

The 'window' component of the low threshold Ca2+ current produces input signal amplification and bistability in cat and rat thalamocortical neurones.

21 January 2018

1 reference

Cellular mechanisms of the slow (<1 Hz) oscillation in thalamocortical neurons in vitro

21 January 2018

1 reference

Contribution of intralaminar thalamic nuclei to spike-and-wave-discharges during spontaneous seizures in a genetic rat model of absence epilepsy

21 January 2018

1 reference

Ataxic mouse mutants and molecular mechanisms of absence epilepsy

21 January 2018

1 reference

Anticonvulsant drug effects on spontaneous thalamocortical rhythms in vitro: ethosuximide, trimethadione, and dimethadione

21 January 2018

1 reference

Genetic engineering of neural function in transgenic rodents: towards a comprehensive strategy?

21 January 2018

1 reference

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

21 January 2018

1 reference

Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism

21 January 2018

1 reference

Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies

21 January 2018

1 reference

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

21 January 2018

1 reference

Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and Susceptibility to idiopathic generalized epilepsy.

21 January 2018

1 reference

Glial glutamate transporter mRNAs in the genetically absence epilepsy rat from Strasbourg

21 January 2018

1 reference

Electrophysiological and pharmacological characteristics of two types of spike-wave discharges in WAG/Rij rats

21 January 2018

1 reference

Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering

21 January 2018

1 reference

Mutant mouse tottering: selective increase of locus ceruleus axons in a defined single-locus mutation

21 January 2018

1 reference

An ultrastructural study of granule cell/Purkinje cell synapses in tottering (tg/tg), leaner (tg(la)/tg(la)) and compound heterozygous tottering/leaner (tg/tg(la)) mice.

21 January 2018

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Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

21 January 2018

1 reference

The neuropathology of ducky, a neurological mutation of the mouse. A pathological and preliminary histochemical study.

21 January 2018

1 reference

The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function

21 January 2018

1 reference

No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study

21 January 2018

1 reference

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

21 January 2018

1 reference

Corticothalamic inputs control the pattern of activity generated in thalamocortical networks.

31 March 2020

1 reference

Neural network of structures in which GABAB receptors regulate absence seizures in the lethargic (lh/lh) mouse model

31 March 2020

1 reference

Evidence for GABAB-mediated mechanisms in experimental generalized absence seizures

31 March 2020

1 reference

Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies

31 March 2020

1 reference

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor ?4 subunit (CHRNA4) and IGE

31 March 2020

1 reference

Mapping of genes predisposing to idiopathic generalized epilepsy

31 March 2020

1 reference

Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies

31 March 2020

1 reference

Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type

31 March 2020

1 reference

Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

31 March 2020

1 reference

Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy

31 March 2020

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Primary (idiopathic) generalized epilepsy and underlying mechanisms.

31 March 2020

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Topographic EEG mapping of 3/s spike-and-wave complexes during absence seizures

31 March 2020

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Dynamic coupling among neocortical neurons during evoked and spontaneous spike-wave seizure activity.

31 March 2020

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Cortical focus drives widespread corticothalamic networks during spontaneous absence seizures in rats.

31 March 2020

1 reference

Spike-wave complexes and fast components of cortically generated seizures. III. Synchronizing mechanisms.

31 March 2020

1 reference

Activity of thalamic reticular neurons during spontaneous genetically determined spike and wave discharges.

31 March 2020

1 reference

Ictal and interictal SPECT findings in childhood absence epilepsy

31 March 2020

1 reference

Epileptiform EEG activities of the centromedian thalamic nuclei in patients with intractable partial motor, complex partial, and generalized seizures

31 March 2020

1 reference

Demonstration of thalamic activation during typical absence seizures using H2(15)O and PET

31 March 2020

1 reference

On the putative contribution of GABAB receptors to the electrical events occuring during spontaneous spike and wave discharges

31 March 2020

1 reference

Impairment of intracortical GABAergic inhibition in a rat model of absence epilepsy

31 March 2020

1 reference

Spike-wave complexes and fast components of cortically generated seizures. IV. Paroxysmal fast runs in cortical and thalamic neurons.

31 March 2020

1 reference

Role of the ferret perigeniculate nucleus in the generation of synchronized oscillations in vitro

31 March 2020

1 reference

Electrical synapses in the thalamic reticular nucleus.

31 March 2020

1 reference

Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami

31 March 2020

1 reference

Spike-wave complexes and fast components of cortically generated seizures. I. Role of neocortex and thalamus.

31 March 2020

1 reference

Relations between cortical and thalamic cellular events during transition from sleep patterns to paroxysmal activity.

31 March 2020

1 reference

An analysis of penicillin-induced generalized spike and wave discharges using simultaneous recordings of cortical and thalamic single neurons.

31 March 2020

1 reference

Laminar localization, morphology, and physiological properties of pyramidal neurons that have the low-threshold calcium current in the guinea-pig medial frontal cortex.

31 March 2020

1 reference

Contribution of GABA(A) and GABA(B) receptors to thalamic neuronal activity during spontaneous absence seizures in rats.

31 March 2020

1 reference

Cortical feedback controls the frequency and synchrony of oscillations in the visual thalamus.

31 March 2020

1 reference

The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy

31 March 2020

1 reference

Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy

31 March 2020

1 reference

Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

31 March 2020

1 reference

Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20

31 March 2020

1 reference

Spike-and-wave epilepsy in rats: sex differences and inheritance of physiological traits

31 March 2020

1 reference

Developmental analysis of hippocampal mossy fiber outgrowth in a mutant mouse with inherited spike-wave seizures.

31 March 2020

1 reference

Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRN811

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11988776%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 December 2019

1020535181

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24 November 2022

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