Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 GeneticVariation disease BEFREE Our study on the functional consequences of SCN2A variants causing the distinct phenotypes of EE, BFNIE and ID contributes to the elucidation of mechanisms underlying the broad phenotypic variability reported for SCN2A variants. 30813884 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 GeneticVariation disease BEFREE SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). 29625812 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 Biomarker disease BEFREE These data validate the utility of XHMM and support that SCN2A is involved in the pathogenic processes underlying epileptic encephalopathy in childhood. 29929112 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 Biomarker disease BEFREE Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI. 28254201 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 GeneticVariation disease BEFREE The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features. 28709814 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 GeneticVariation disease BEFREE Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 Biomarker disease BEFREE Twelve patients with an SCN2A epileptic encephalopathy underwent electroclinical phenotyping. 26291284 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 GeneticVariation disease BEFREE Missense mutations in SCN2A, encoding the brain sodium channel NaV 1.2, have been described in benign familial neonatal-infantile seizures (BFNIS), a self-limiting disorder, whereas several SCN2A de novo nonsense mutations have been found in patients with more severe phenotypes including epileptic encephalopathy. 23758435 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.180 CausalMutation disease CLINVAR