Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker disease BEFREE Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy. 31176596 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 GeneticVariation disease BEFREE Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. 30355546 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker disease GENOMICS_ENGLAND Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders. 28051072 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker disease GENOMICS_ENGLAND Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker disease BEFREE We identified mutations in CDKL5, SCN2A, SETD5, ALG13, and TBL1XR1 in seven patients with West syndrome, and in SCN1A and GRIN1 in the two patients with unclassified epileptic encephalopathy. 26482601 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 GeneticVariation disease BEFREE Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. 25864721 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.440 Biomarker disease HPO