Disease: Benign adult familial myoclonic epilepsy ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4273988
Disease: Benign adult familial myoclonic epilepsy
Benign adult familial myoclonic epilepsy 		0.010 Biomarker disease BEFREE Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located. 29507423 2018