Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
It is also suggested how more knowledge about the role of stefin B in a cell's response to misfolded proteins could be used to modulate progressive myoclonus epilepsy of type 1 EPM1 disease.
|
30669344 |
2019 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CSTB may play a critical role in brain physiology because its mutations cause progressive myoclonic epilepsy-1A (EPM1A), the most common form of progressive myoclonic epilepsy.
|
31467503 |
2019 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Nine patients with Unverricht-Lundborg (EPM1) progressive myoclonus epilepsy type underwent two series of 500 stimuli at 0.3Hz through round coil twice a day for five consecutive days.
|
29396360 |
2018 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
EPM1 (epilepsy, progressive myoclonic 1; Unverricht-Lundborg disease, OMIM #254800) is the most frequent form of progressive myoclonus epilepsy.
|
27785699 |
2017 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht-Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800).
|
28378817 |
2017 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3.
|
27888502 |
2017 |
Myoclonic Epilepsies, Progressive
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
|
26843564 |
2016 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
JME shares electroclinical features with Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration.
|
25752200 |
2015 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the extensive variability in the clinical severity of the symptoms observed among patients with Unverricht-Lundborg disease (progressive myoclonus epilepsy type 1 [EPM1]) homozygous for the dodecamer expansion mutation in the cystatin B (CSTB) gene.
|
25770194 |
2015 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding for CSTB is frequently mutated in association with the rare neurodegenerative condition progressive myoclonus epilepsy.
|
24234043 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
EPM1 is a rare progressive myoclonus epilepsy accompanied by apoptosis in the cerebellum of patients.
|
24909779 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
|
23205931 |
2012 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Among Hsa21 candidate genes in epilepsy, CSTB, coding for the cystein protease inhibitor cystatin B, is involved in progressive myoclonus epilepsy and ataxia in both mice and human.
|
22140471 |
2011 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that CysC is neuroprotective in vivo, in a mouse model of the inherited neurodegenerative disorder, progressive myoclonic epilepsy type 1 (EPM1).
|
20889561 |
2010 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The entity was later designated Unverricht-Lundborg disease (ULD) or progressive myoclonus epilepsy type 1 (EPM1).
|
18824390 |
2009 |
Myoclonic Epilepsies, Progressive
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo.
|
17920138 |
2008 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Unverricht-Lundborg disease (ULD), progressive myoclonic epilepsy type 1 (EPM1, OMIM254800), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures.
|
18325013 |
2008 |
Myoclonic Epilepsies, Progressive
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
|
17003839 |
2007 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins.
|
17003839 |
2007 |
Myoclonic Epilepsies, Progressive
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
|
15483648 |
2005 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
|
15483648 |
2005 |
Myoclonic Epilepsies, Progressive
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the gene encoding cystatin-B (CSTB) has been shown to cause progressive myoclonus epilepsy.
|
12901878 |
2003 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
The Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder that is caused by the dysfunction of the cystatin B (CSTB) gene product.
|
14517952 |
2003 |
Myoclonic Epilepsies, Progressive
|
0.200 |
Biomarker
|
disease |
BEFREE |
New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B.
|
12393805 |
2002 |
Myoclonic Epilepsies, Progressive
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy.
|
12452481 |
2002 |