Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 GeneticVariation group BEFREE Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with myoclonic-atonic epilepsy (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and intellectual disability. 26262932 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 Biomarker group BEFREE The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy, marked clinical photosensitivity, atonic-myoclonic-absence, and intellectual disability ranging from mild to severe. 25672921 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 GeneticVariation group BEFREE In this study, we aimed to explore the role of CHD2 in LGS, as CHD2 mutations have been described recently in various epileptic encephalopathies. 24614520 2014
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 GeneticVariation group BEFREE Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 Biomarker group HPO