FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.200 Biomarker disease RGD Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures. 23831253 2013