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GenomicsStenotrophomonas maltophilia EPM1
Stenotrophomonas maltophilia EPM1 Genome sequencing and assembly
PRJNA165731 | ENA
ProteomicsPathological deficit of Cystatin B impairs synaptic plasticity in EPM1 human cerebral organoids
Cystatin B (CSTB) is a small protease inhibitor involved in cell proliferation and migration, and composition of extracellular matrix during brain development. Loss-of-function mutations in the gene encoding CSTB cause progressive myoclonic epilepsy 1 (EPM1). We previously demonstrated that CSTB is ...
ORGANISM(S): Homo sapiens (Human) 
2024-08-10 | PXD041125 | Pride
Epm1  cystatin b  synaptic plasticity 
ProteomicsTranscriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1
Progressive myoclonus epilepsy EPM1 is a rare neurodegenerative disorder resulting from the partial loss of function of cystatin B (CSTB), a cysteine protease inhibitor with neuroprotective roles. The disease's mechanisms are not fully understood, and no treatments exist to manage the severe myoclon...
ORGANISM(S): Mus musculus (Mouse) 
2026-04-27 | PXD068278 | Pride
Proteomics Brain Cstb-/- mouse Cystatin b Transcriptomics Epm1 
GenomicsTranscriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1
Transcriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1
PRJNA1333970 | ENA
TranscriptomicsTranscriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1
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...
ORGANISM(S): Mus musculus 
2026-03-05 | GSE309108 | GEO
UnknownComorbidities in patients with Unverricht-Lundborg disease (EPM1).
Not available
S-EPMC9826374 | biostudies-literature
ProteomicsCystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy
Progressive myoclonus epilepsy (PME) of Unverricht-Lundborg-type (EPM1) is an autosomal recessive neurodegenerative disorder with the highest incidence of PME worldwide. Mutations in the gene encoding cystatin B (CSTB) are the primary genetic cause of EPM1. Here, we investigate the role of CSTB duri...
ORGANISM(S): Homo sapiens (Human) 
2020-05-13 | PXD018021 | Pride
Cystatin b  human cerebral organoids  progressive myoclonus epilepsy  mass spectrometry 
UnknownShort- and long-interval intracortical inhibition in EPM1 is related to genotype.
Not available
S-EPMC10107775 | biostudies-literature
UnknownThe network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.
Not available
S-EPMC5100097 | biostudies-literature
UnknownCystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
Not available
S-EPMC7278547 | biostudies-literature
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