Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
|
29605618 |
2018 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Action myoclonus-renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss-of-function mutations in the SCARB2 gene encoding lysosomal integral membrane protein type 2 (LIMP2).
|
27582254 |
2016 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCARB2 have also been identified as the cause of action myoclonus renal failure (AMRF), and in some cases progressive myoclonic epilepsy.
|
24389070 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.400 |
Biomarker
|
disease |
MGD |
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
|
25316793 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
|
23659519 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
|
23659519 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
|
24485911 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction.
|
22050460 |
2011 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
|
21670406 |
2011 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD).
|
19847901 |
2009 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome.
|
19454373 |
2009 |
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
|
18424452 |
2008 |