Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype

<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion

Robert K. Naviaux, Khue Vu Nguyen · Annals of Neurology · 2004 · 460 citations

Life Sciences, Genetics, Molecular Genetics +17

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Charalampos Tzoulis · Brain · 2006 · 352 citations

Life Sciences, Genetics, Neurology +15

DIFFUSE PROGRESSIVE DEGENERATION OF THE GRAY MATTER OF THE CEREBRUM

Bernard J. Alpers · Archives of Neurology And Psychiatry · 1931 · 204 citations

Medicine, Pathology, Pediatrics +14

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

Bernt A. Engelsen, Charalampos Tzoulis, Bjørn Karlsen et al. · Brain · 2008 · 166 citations · Full text

Medicine, Genetics, Neurology +17

<i>POLG</i> mutations in Alpers syndrome

Khue Vu Nguyen, Elsebet Østergaard, Søren Ravn et al. · Neurology · 2005 · 150 citations

Life Sciences, Genetics, Molecular Genetics +14