SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE Whole-exome sequencing identified an SGCE variant (c.1295G > A, p.Ser432His) that could possibly have contributed to the development of dystonia in the proband. 23849371 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon sarcoglycan negative myoclonus with or without concurrent dystonia. 24812007 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE Six patients aged 7 to 16 years and diagnosed with isolated dystonia ( DYT1 negative) (3 patients), choreo-dystonia related to PDE2A mutation (1 patient), or myoclonus-dystonia syndrome SGCE mutations (2 patients) were evaluated during a period of 6 to 19 months. 30028274 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group 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
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. 18175340 2008
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 Biomarker group BEFREE In addition, conditional knockout mouse models for DYT1 and DYT11 dystonia demonstrate that loss of the causal dystonia-related proteins in the striatum leads to motor deficits. 23893455 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. 18759336 2008
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 Biomarker group BEFREE 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. 21386109 2011
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. 15197720 2004
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 GeneticVariation group BEFREE The cortical activation patterns in SGCE mutation carriers during this motor task point to a disorganized sensorimotor integration in this uniform group of patients with dystonia and are consistent with functional neuroimaging studies in other types of (hereditary) dystonia. 20385914 2010
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.100 Biomarker group BEFREE Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia. 17898012 2007