|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.
|
15389977 |
2004 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a Norwegian family with myoclonus-dystonia and epilepsy associated with a novel SGCE mutation.
|
24297365 |
2014 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene.
|
17101905 |
2006 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype.
|
23365103 |
2013 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe two unrelated children with M-D (DYT11) who presented with writer's cramp.
|
18571946 |
2009 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.
|
14978685 |
2004 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine.
|
25406829 |
2014 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D).
|
18719906 |
2009 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia.
|
15390016 |
2004 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.
|
22026499 |
2012 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
MGD |
This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE.
|
16099459 |
2005 |
|
Myoclonic dystonia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE.
|
16099459 |
2005 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described.
|
19896264 |
2010 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (DYT11)-positive myoclonus-dystonia.
|
30302819 |
2019 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The intermuscular coherence in the low frequency band in DYT11 MC with predominant dystonia is concordant with the previously described coherence in dystonia and suggests that the pathophysiology of M-D shares common pathophysiological features with dystonia.
|
17486590 |
2007 |
|
Myoclonic dystonia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The epsilon-sarcoglycan gene in myoclonic syndromes.
|
15728306 |
2005 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome.
|
20684011 |
2010 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative.
|
16534121 |
2006 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
|
12634861 |
2003 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, five of 25 SGCE-negative M-D patients carried RELN rare missense variants.
|
25648840 |
2015 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
|
12707948 |
2003 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the SGCE gene revealed a novel nonsense mutation c.942C>A (p.Tyr314X) in exon 7, confirming the diagnosis of myoclonus dystonia.
|
19147379 |
2009 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.
|
15258227 |
2004 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.
|
15258227 |
2004 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent research has highlighted the role of the cerebellum in the pathophysiology of myoclonus-dystonia syndrome as a result of mutations in the ɛ-sarcoglycan gene (DYT11).
|
30334277 |
2018 |