Literature DB >> 11988776

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

Vincenzo Crunelli1, Nathalie Leresche.   

Abstract

Childhood absence epilepsy is an idiopathic, generalized non-convulsive epilepsy with a multifactorial genetic aetiology. Molecular-genetic analyses of affected human families and experimental models, together with neurobiological investigations, have led to important breakthroughs in the identification of candidate genes and loci, and potential pathophysiological mechanisms for this type of epilepsy. Here, we review these results, and compare the human and experimental phenotypes that have been investigated. Continuing efforts and comparisons of this type will help us to elucidate the multigenetic traits and pathophysiology of this form of generalized epilepsy.

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Year:  2002        PMID: 11988776     DOI: 10.1038/nrn811

Source DB:  PubMed          Journal:  Nat Rev Neurosci        ISSN: 1471-003X            Impact factor:   34.870


  171 in total

Review 1.  Novel neuronal and astrocytic mechanisms in thalamocortical loop dynamics.

Authors:  Vincenzo Crunelli; Kate L Blethyn; David W Cope; Stuart W Hughes; H Rheinallt Parri; Jonathan P Turner; Tibor I Tòth; Stephen R Williams
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2002-12-29       Impact factor: 6.237

2.  R U OK? The Novel Therapeutic Potential of R Channels in Epilepsy.

Authors:  Jeanne T Paz; John R Huguenard
Journal:  Epilepsy Curr       Date:  2012-03       Impact factor: 7.500

3.  GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.

Authors:  Katharine N Gurba; Ciria C Hernandez; Ningning Hu; Robert L Macdonald
Journal:  J Biol Chem       Date:  2012-02-02       Impact factor: 5.157

4.  Genetic complexity of absence seizures in substrains of C3H mice.

Authors:  S Tokuda; B J Beyer; W N Frankel
Journal:  Genes Brain Behav       Date:  2009-12-17       Impact factor: 3.449

5.  Diminished presynaptic GABA(B) receptor function in the neocortex of a genetic model of absence epilepsy.

Authors:  Yugi Inaba; Margherita D'Antuono; Giuliano Bertazzoni; Giuseppe Biagini; Massimo Avoli
Journal:  Neurosignals       Date:  2009-01-29

6.  Investigation of glutamine and GABA levels in patients with idiopathic generalized epilepsy using MEGAPRESS.

Authors:  Fahmida A Chowdhury; Ruth L O'Gorman; Lina Nashef; Robert D Elwes; Richard A Edden; James B Murdoch; Gareth J Barker; Mark P Richardson
Journal:  J Magn Reson Imaging       Date:  2014-03-03       Impact factor: 4.813

7.  Comparison of numbers of interneurons in three thalamic nuclei of normal and epileptic rats.

Authors:  Safiye Cavdar; Hüsniye Hacioğlu Bay; Sercan D Yildiz; Dilek Akakin; Serap Sirvanci; Filiz Onat
Journal:  Neurosci Bull       Date:  2014-02-10       Impact factor: 5.203

8.  Astrocytic GABA transporter GAT-1 dysfunction in experimental absence seizures.

Authors:  Tiina Pirttimaki; H Rheinallt Parri; Vincenzo Crunelli
Journal:  J Physiol       Date:  2012-10-22       Impact factor: 5.182

9.  Suppressive effect of Rho-kinase inhibitors Y-27632 and fasudil on spike-and-wave discharges in genetic absence epilepsy rats from Strasbourg (GAERS).

Authors:  Nihan Çarçak; Melis Yavuz; Tuğba Eryiğit Karamahmutoğlu; Akif Hakan Kurt; Meral Urhan Küçük; Filiz Yılmaz Onat; Kansu Büyükafsar
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2018-08-02       Impact factor: 3.000

10.  Deletion of phospholipase C beta4 in thalamocortical relay nucleus leads to absence seizures.

Authors:  Eunji Cheong; Yihong Zheng; Kyoobin Lee; Jungryun Lee; Seongwook Kim; Maryam Sanati; Sukyung Lee; Yeon-Soo Kim; Hee-Sup Shin
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-02       Impact factor: 11.205

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