Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
0.320 GeneticVariation disease BEFREE Mutations in SCN1A gene, encoding the voltage-gated sodium channel α1-subunit, are found to be associated with severe myoclonic epilepsy in infancy or Dravet syndrome (DS), but only rarely with the myoclonic astatic epilepsy (MAE, or Doose syndrome). 21396429 2011
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
0.320 Biomarker disease CTD_human Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 21480876 2011
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
0.320 GeneticVariation disease BEFREE SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 15944908 2005