Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 GeneticVariation disease BEFREE We described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies. 31477274 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 GeneticVariation disease BEFREE Heterozygous mutations in the gene encoding eEF1A2, EEF1A2, have recently been shown to cause epilepsy, autism, and intellectual disability. 30370994 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.330 GeneticVariation disease BEFREE Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2). 23647072 2013