FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Benign Rolandic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.010 GeneticVariation disease BEFREE The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular genetic analysis of the fragile X mental retardation-1 gene in 16 children with benign childhood epilepsy with centrotemporal spikes (BECT, Rolandic epilepsy). 8972540 1996