In depth behavioral phenotyping unravels complex motor disturbances in Cstb^-/- mouse, a model for progressive myoclonus epilepsy type 1.

ABSTRACT: Progressive myoclonus epilepsy type 1 (EPM1) is an autosomal recessively inherited childhood-adolescence onset neurodegenerative disease caused by mutations in the cystatin B (CSTB gene). The key clinical manifestation in EPM1 is progressive, stimulus-sensitive, in particular action-induced myoclonus. The cystatin B-deficient mouse model, Cstb^-/-, has been described to present with myoclonic seizures and progressive ataxia. Here we describe results from in-depth behavioral phenotyping of the Cstb^-/- mouse model in pure isogenic 129S2/SvHsd background covering ages from 1.5 to 6 months. We developed a method for software-assisted detection of myoclonus from video recordings of the Cstb^-/- mice. Additionally, we observed that the m

SUBMITTER: Pollari E 

PROVIDER: S-EPMC10764494 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature