RBFOX1, RNA binding fox-1 homolog 1, 54715

N. diseases: 103; N. variants: 76
Disease: Epilepsy, Rolandic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.110 CausalMutation disease CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.110 GeneticVariation disease BEFREE The observed RBFOX3 exon 3 deletion and nonsense mutation suggest that RBFOX3 represents a novel risk factor for RE, indicating that exon deletions and truncating mutations of RBFOX1 and RBFOX3 contribute to the genetic variance of partial and generalized idiopathic epilepsy syndromes. 24039908 2013