Sort   by:  
 Page size 
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
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 
UnknownProgressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Not available
S-EPMC8436768 | biostudies-literature
UnknownZonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
Not available
S-EPMC8283161 | biostudies-literature
UnknownILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Not available
S-EPMC10947580 | biostudies-literature
UnknownDrug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.
Not available
S-EPMC6746890 | biostudies-literature
UnknownMolecular background of progressive myoclonus epilepsy.
Not available
S-EPMC165608 | biostudies-literature
UnknownProgressive myoclonus epilepsy associated with SACS gene mutations.
Not available
S-EPMC4936476 | biostudies-literature
Sort   by:  
 Page size