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 		0.520 GeneticVariation disease BEFREE Heterozygous GRIN2A mutations were detected in four patients (G760S, D1385Y, C455Y and C231R) GRIN2A mutation was found in 11.1% (1 out of 9 cases) of LKS, and in 7.1% (3 out of 42 cases) of ABPE, but in none with ECSWS and BECTS. 29056244 2018
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.520 GermlineCausalMutation disease ORPHANET Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.520 GeneticVariation disease BEFREE We did not detect pathogenic variants in GRIN2A in other epileptic encephalopathies (n = 475) nor in probands with benign childhood epilepsy with centrotemporal spikes (n = 81). 23933818 2013
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.520 Biomarker disease CTD_human Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013