Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Chioza, Barry A.; Aicardi, Jean; Aschauer, Harald; Brouwer, Oebele F.; Callenbach, Petra M. C.; Covanis, Athanasios; Dooley, Joseph M.; Dulac, Olivier; Durner, Martina; Eeg‐Olofsson, Orvar; Feucht, Martha; Friis, Mogens Laue; Guerrini, Renzo; Kjeldsen, Marianne Juel; Nabbout, Rima; Nashef, Lina; Sander, Thomas; Siren, Auli; Wirrell, Elaine; McKeigue, Paul; Robinson, Robert A.; Gardiner, R. M.; Everett, Kate V.

doi:10.1016/j.eplepsyres.2009.09.010

Cited by 29 publications

(22 citation statements)

References 43 publications

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“…Renzo Guerrini has been involved in work identifying the genes underlying abnormalities of the cortex leading to epilepsy, including genes expressed at different stages of the developmental process, i.e. proliferation, migration and connection formation (Guerrini et al 2008;Chioza et al 2009). It is also clear, however, that external events can interfere with the timetable of development leading to brain malformation.…”

Section: Principles Of Cortical Arealization In Humanmentioning

confidence: 99%

Renewed focus on the developing human neocortex

2010

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Many specifically human psychiatric and neurological conditions have developmental origins. Rodent models are extremely valuable for the investigation of brain development, but cannot provide insight into aspects that are specifically human. The human brain, and particularly the cerebral cortex, has some unique genetic, molecular, cellular and anatomical features, and these need to be further explored. Cortical expansion in human is not just quantitative; there are some novel types of neurons and cytoarchitectonic areas identified by their gene expression, connectivity and functions that do not exist in rodents. Recent research into human brain development has revealed more elaborated neurogenetic compartments, radial and tangential migration, transient cell layers in the subplate, and a greater diversity of early-generated neurons, including predecessor neurons. Recently there has been a renaissance of the study of human brain development because of these unique differences, made possible by the availability of new techniques. This review gives a flavour of the recent studies stemming from this renewed focus on the developing human brain.

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Section: Principles Of Cortical Arealization In Humanmentioning

confidence: 99%

Renewed focus on the developing human neocortex

2010

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“…It is encoded by two genes, MIR128‐1 and MIR128‐2 , with the latter contributing to at least 80% of all miR‐128 expression in mice (Tan et al, ; Franzoni et al, ). In humans, the MIR128‐2 gene is located on chromosome 3 within a region linked to idiopathic generalized epilepsy (Chioza et al, ; Blair et al, ). Down‐regulation of miR‐128 was also recently found in patients with TLE (Alsharafi and Xiao, ) and in glioma patients exhibiting seizures (Yuan et al, ), which further supported an important role of this microRNA in controlling neuronal excitability.…”

Section: Candidate Micrornas With Therapeutic Potential In Epilepsy Amentioning

confidence: 99%

MicroRNA‐induced silencing in epilepsy: Opportunities and challenges for clinical application

Tiwari

Peariso

Groß

2017

Developmental Dynamics

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MicroRNAs are master regulators of gene expression. Single microRNAs influence multiple proteins within diverse molecular pathways and networks. Therefore, changes in levels or activity of microRNAs can have profound effects on cellular function. This makes dysregulated microRNA-induced silencing an attractive potential disease mechanism in complex disorders like epilepsy, where numerous cellular pathways and processes are affected simultaneously. Indeed, several years of research in rodent models have provided strong evidence that acute or recurrent seizures change microRNA expression and function. Moreover, altered microRNA expression has been observed in brain and blood from patients with various epilepsy disorders, such as tuberous sclerosis. MicroRNAs can be easily manipulated using sense or antisense oligonucleotides, opening up opportunities for therapeutic intervention. Here, we summarize studies using these techniques to identify microRNAs that modulate seizure susceptibility, describe protein targets mediating some of these effects, and discuss cellular pathways, for example neuroinflammation, that are controlled by epilepsy-associated microRNAs. We critically assess current gaps in knowledge regarding target-and cell-specificity of microRNAs that have to be addressed before clinical application as therapeutic targets or biomarkers. The recent progress in understanding microRNA function in epilepsy has generated strong momentum to encourage in-depth mechanistic studies to develop microRNA-targeted therapies. Developmental Dynamics 247:94-110, 2018. V C 2017 Wiley Periodicals, Inc.

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“…A number of family-based genome-wide linkage studies of GGE have been performed (13)(14)(15)(16)(17)(18). Failure to replicate the initial linkage in independent families has diminished the impact of those findings.…”

Section: Large-scale Genome-wide Association and Linkagementioning

confidence: 99%