Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE Epilepsy is common in individuals with mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma. 29920680 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE Patients with epilepsy (N = 367) were retrospectively identified from medical record files and screened for mutations in POLG1. 30255931 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 Biomarker disease BEFREE Our study increases the range of clinical presentations associated with mutations in POLG gene, underlining some peculiar clinical features, such as PEO associated with corneal edema, and epilepsy, severe neuropathy with achalasia. 28130605 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 Biomarker disease BEFREE Finally, we simplify the classification of POLG-related disease in children using epilepsy as the crucial defining element; we show that Alpers and myocerebrohepatopathy spectrum follow different outcomes and that they manifest different degrees of respiratory chain dysfunction. 28471437 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE We retrospectively reviewed the medical records of seven patients with POLG mutations and epilepsy. 26104464 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review. 27554452 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 Biomarker disease BEFREE However, POLG1 is not a common cause of isolated epilepsy or ataxia in childhood. 21357833 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers. 21515089 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 Biomarker disease BEFREE Our cases underscore several important findings: POLG mutations have been observed in every ethnic group studied to date; early predominance of epileptiform discharges over the occipital region is common in POLG-induced epilepsy; the EEG and MRI findings varying between patients and stages of the disease; and VPA dosing at any stage of Alpers-Huttenlocher syndrome can precipitate liver failure. 20138553 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. 19435586 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 GeneticVariation disease BEFREE Different mutations, or combinations of mutations, in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase, are associated with a spectrum of clinical presentations including autosomal dominant or recessive progressive external ophthalmoplegia (PEO), juvenile-onset ataxia and epilepsy, and Alpers-Huttenlocher syndrome. 18502641 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.400 Biomarker disease CTD_human Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. 18716558 2008