Focal Epilepsy and the Clock Gene.

Roberto Refinetti

doi:10.15844/pedneurbriefs-32-6

Abstract

Investigators from Children's National Medical Center, Wenzhou Medical University, Virginia Tech, University of Colorado, University of Virginia, Georgetown University, University of Maryland, and Brown University performed transcriptome analysis on human epileptogenic tissue and extended the investigation by creating and testing mouse lines with targeted genetic deletions of the Clock gene.

Highlights

Investigators from Children’s National Medical Center, Wenzhou Medical University, Virginia Tech, University of Colorado, University of Virginia, Georgetown University, University of Maryland, and Brown University performed transcriptome analysis on human epileptogenic tissue and extended the investigation by creating and testing mouse lines with targeted genetic deletions of the Clock gene
Because one of the genes that make up the molecular mechanism of the circadian clock had been previously shown to alter seizure threshold in mice, the authors of this article evaluated the expression of the Clock gene (Bmal1’s partner in the positive loop of the circadian clock) in brain tissue from patients with intractable epilepsy
The authors noticed that Emx-Cre;Clockflox/flox mice have defects in dendritic spines similar to spine defects seen in human epileptogenic tissue and that neurons from both the mutant mice and human tissue show decreased spontaneous inhibitory post-synaptic currents

Summary

Introduction

Investigators from Children’s National Medical Center, Wenzhou Medical University, Virginia Tech, University of Colorado, University of Virginia, Georgetown University, University of Maryland, and Brown University performed transcriptome analysis on human epileptogenic tissue and extended the investigation by creating and testing mouse lines with targeted genetic deletions of the Clock gene. Because one of the genes that make up the molecular mechanism of the circadian clock (namely, Bmal1) had been previously shown to alter seizure threshold in mice, the authors of this article evaluated the expression of the Clock gene (Bmal1’s partner in the positive loop of the circadian clock) in brain tissue from patients with intractable epilepsy.

Results

Conclusion