Cystatin B knockout model of progressive myoclonus epilepsy: postnatal day 7 cerebellum
Summary:
Analysis of cerebella from pre-symptomatic, postnatal day 7 cystatin B (CSTB)-deficient mice. Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a neurodegenerative disease caused by mutations in the CSTB gene. Results provide insight into the molecular basis of EPM1 pathogenesis.
Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M et al. Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation. PLoS One 2014;9(2):e89321. PMID: 24586687
