POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 Biomarker disease BEFREE Although mutations in either mitochondrial DNA or POLG are often present, other nuclear defects in mitochondrial DNA replication and protein translation have been associated with a severe epileptic encephalopathy. 25787132 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 Biomarker disease BEFREE POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal. 21357833 2011