SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.020 GeneticVariation phenotype BEFREE The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation. 24297365 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.020 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