MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.010 Biomarker disease BEFREE Since absence epilepsy is infrequently observed in Rett syndrome patients, these results indicate that the predominant spontaneous electroclinical phenotype of MeCP2-deficient mice we examined does not faithfully recapitulate the most prevalent seizure types observed in affected patients. 29414525 2018