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The characterization of iPSC-derived cortical neurons with mutations in SGCE revealed that these cells are a suitable model mirroring the endogenous environment in the myoclonus-dystonia patient brain, especially, when focusing on concrete molecular aspects of the disease mechanism.
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A novel nonsense SGCE mutation was found in a Japanese family with myoclonus-dystonia.
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This study demonstrated that Psychiatric features are not likely to be related with the SGCE mutation itself but just bespeak disability in clinical MD syndrome regardless of the SGCE mutation.
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SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements.
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Tata confirms that SGCE mutations are most commonly identified in Myoclonus dystonia syndrome patients with (1) age at onset
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found one patient with a novel heterozygous frameshift mutation in the DYT11 gene
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The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation
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A novel frameshift mutation of the SGCE gene in an Iranian family with Myoclonus-dystonia syndrome confirming the variability of the clinical symptoms caused by the same mutation within members of a family.
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In myoclonus-dystonia syndrome patients a substantial mutation in exon 3 of SGCE gene was found.
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The results of this study suggested performing gene dosage analysis by multiple ligation-dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes.
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SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype.
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Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model.
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anxiety disorders and executive dysfunctions may be part of the phenotype of myoclonus-dystonia patients with a DYT11 mutation
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The results of this review confirmed the association of epsilon-sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects.
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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.
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Dystonia severity in twenty-five clinically affected DYT11 mutation carriers is strongly correlated with increased gray matter volume in bilateral putamina.
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This study demonistrated that Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
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the mRNA expression level of SGCE were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts
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This study provides the first neurophysiological evidence of cerebellar dysfunction in DYT11 dystonia and supports a role of cerebellar dysfunction in the myoclonus-dystonia phenotype.
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Biased SGCE gene expression is based on parent of origin rather than on a strictly dichotomous maternal imprinting mechanism, consistent with clinical observations.
