Disease: Epilepsy with myoclonic-atonic seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4727877
Disease: Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures 		0.010 GeneticVariation disease BEFREE We identified a de novo c.508C>T (p.Arg170Trp) variant in AP2M1 in two individuals with a phenotypic similarity that was higher than expected by chance (p = 0.003) and a phenotype related to epilepsy with myoclonic-atonic seizures. 31104773 2019