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: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. 18571946 2009
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype BEFREE Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]. 23893446 2013
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype 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: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE One deceased patient with severe epilepsy and myoclonus could not be tested for the SGCE mutation. 24297365 2014
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype LHGDN Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. 16534121 2006
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. 18175340 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. 12900898 2003
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype BEFREE Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11). 16722965 2006
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype BEFREE Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. 18759336 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype 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
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype 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: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE Patients with myoclonus and SGCE mutations also showed an improvement in action myoclonus (95%-100%) and in functional tests (50%-75%) according to the Unified Motor-Rating Scale. 30028274 2018
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype BEFREE Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. 11528394 2001
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 Biomarker phenotype BEFREE DYT11 myoclonus-dystonia (M-D) syndrome is a neurological movement disorder characterized by myoclonic jerks and dystonic postures or movement that can be alleviated by alcohol. 22438980 2012
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE In the combined forms, dystonia is accompanied by parkinsonism (GCH1/DYT5a; TH/DYT5b; ATP1A3/DYT12; TAF1/DYT3) or myoclonus (SGCE/DYT11). 24262166 2014
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. 19147379 2009
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE Two positive and three negative SGCE mutation patients presenting with predominant myoclonus underwent Vim DBS. 30419400 2019
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE We present a 74-year-old woman with inherited myoclonus-dystonia, with predominant myoclonus and a novel mutation in the epsilon-sarcoglycan gene. 19081669 2009
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE We describe the myoclonus in patients with mutations in the SGCE gene and characterize the electrophysiologic pattern of this myoclonus. 18362280 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype LHGDN Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. 18175340 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.200 GeneticVariation phenotype BEFREE This coherence was not present in DYT11 MC with mild (static) dystonia and/or predominating myoclonus. 17486590 2007