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Transcriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1

GSE309108 Mus musculus Expression profiling by high throughput sequencing 4 samples Submitted 2026/03/05 Platform GPL19057
Summary
Progressive myoclonus epilepsy EPM1 is a rare neurodegenerative disease caused by partial loss of function of cystatin B (CSTB), a cysteine protease inhibitor with known neuroprotective roles. The disease mechanisms remain largely unsolved, and no treatments are available to control the debilitating myoclonus in EPM1. We investigated the impact of CSTB loss on transcriptome in three regions of CSTB-deficient (Cstb-/-) mouse brain — the cerebellum, cerebral cortex, and hippocampus — during disease progression, providing comprehensive insights into the molecular changes and disease mechanisms.
Published in
Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1
Malyutina A, Lund C, Tegelberg S et al. · Disease models & mechanisms 2026 · PMID 41782446 · doi:10.1242/dmm.052681
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Also filed as BioProject PRJNA1333970 and SRA study SRP626449. Searching any of these in the dataset finder brings you back here.

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