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 		0.530 GeneticVariation disease BEFREE We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. 29358611 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.530 GeneticVariation disease BEFREE Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing. 28936771 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.530 Biomarker disease CTD_human Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.530 GermlineCausalMutation disease ORPHANET Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.530 Biomarker disease BEFREE Both CSWSS and LKS can be associated with the electroencephalography pattern of electrical status epilepticus during slow-wave sleep and are part of a clinical continuum that at its benign end also includes rolandic epilepsy (RE) with centrotemporal spikes. 22738016 2012