Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two.
|
27702709 |
2016 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated phosphodiesterase 7B (PDE7B), neuromedin B receptor (NMBR) and epilepsy progressive myoclonus type 2A (EPM2A) genes in schizophrenia (SCZ).
|
27092952 |
2016 |
Myoclonic Epilepsies, Progressive
|
0.500 |
Biomarker
|
disease |
CTD_human |
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
|
25401298 |
2015 |
Myoclonic Epilepsies, Progressive
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.
|
25246353 |
2014 |
Myoclonic Epilepsies, Progressive
|
0.500 |
Biomarker
|
disease |
BEFREE |
Lafora disease (LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phosphatase laforin or ubiquitin ligase malin.
|
23408434 |
2013 |
Myoclonic Epilepsies, Progressive
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Lafora disease: a case report, pathologic and genetic study.
|
21623095 |
2011 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NHL repeat containing 1 (NHLRC1) gene were described in association with a more benign clinical course and later age of death, compared with epilepsy progressive myoclonus type 2A (EPM2A) mutations.
|
21555062 |
2011 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1.
|
20738377 |
2010 |
Myoclonic Epilepsies, Progressive
|
0.500 |
Biomarker
|
disease |
LHGDN |
The EPM2A gene, encoding the dual-phosphatase laforin, is mutated in a fatal form of progressive myoclonus epilepsy known as Lafora disease (LD).
|
18617530 |
2008 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The EPM2A gene, encoding the dual-phosphatase laforin, is mutated in a fatal form of progressive myoclonus epilepsy known as Lafora disease (LD).
|
18617530 |
2008 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes.
|
17452581 |
2007 |
Myoclonic Epilepsies, Progressive
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
|
14722920 |
2004 |
Myoclonic Epilepsies, Progressive
|
0.500 |
Biomarker
|
disease |
BEFREE |
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
|
15102711 |
2004 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have identified an interacting partner protein (encoded by the human EPM2AIP1 gene (approved symbol)) for laforin, the product of the EPM2A gene, which is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy.
|
12782127 |
2003 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus naturally occurring mutations within the CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatase expression.
|
11739371 |
2002 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lafora's disease is a progressive myoclonus epilepsy with pathognomonic inclusions (polyglucosan bodies) caused by mutations in the EPM2A gene.
|
10932264 |
2000 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
|
11175283 |
2000 |
Myoclonic Epilepsies, Progressive
|
0.500 |
Biomarker
|
disease |
BEFREE |
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
|
11001928 |
2000 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the novel gene, EPM2A, have been shown recently to cause the progressive myoclonus epilepsy of Lafora type.
|
10092504 |
1999 |
Myoclonic Epilepsies, Progressive
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
|
9931343 |
1999 |
Myoclonic Epilepsies, Progressive
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
|
9771710 |
1998 |