Dysregulation of Glial Gap Junction Protein Innexin2 Mediates Seizures and Disrupted Sleep in a Drosophila Model for North Sea Progressive Myoclonus Epilepsy.

ABSTRACT: North Sea Progressive Myoclonus Epilepsy (NS-PME) is a rare genetic disease that presents at an early age with progressive ataxia, myoclonus, and epilepsy. The disease is caused by a mutation in the Golgi SNAP receptor 2 gene (GOSR2). However, the consequences of this genetic defect at the cellular level are still unknown. Using a NS-PME Drosophila melanogaster model, it was previously found that knockdown of membrin, the fruit fly GOSR2 ortholog, in glial cells leads to progressive heat-induced seizure-like behavior in adult flies. Upon close inspection, we found NS-PME flies not only show progressive heat-induced seizures but also disrupted sleep architecture (higher number of shorter sleep bouts). Here we asked what glial cellular consequences could be underlying these phenotypes of mem

SUBMITTER: Grzeschik NA 

PROVIDER: S-EPMC12598673 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature