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Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations were considered. Seventy\u2010two articles were included for analysis. We identified 128 pathogenic variants in 372 patients who had\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\n                    <\/jats:italic>\n                    \u2010related epilepsy. Among these, 84% of the cases harbored at least one of these pathogenic variants: p.Ala467Thr, p.Trp748Ser, and p.Gly848Ser. A bimodal distribution of disease onset was present in early childhood (&lt;5 years) and adolescence; female patients had a later presentation than male patients (median age 4.00 vs. 1.83 years, p\u2010value = 0.041). Focal\u2010onset seizure including convulsive, myoclonus, and occipital seizures was common at the outset and was refractory to pharmacotherapy. We confirmed that homozygous pathogenic variants located in the linker region of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\n                    <\/jats:italic>\n                    were associated with later age of onset and longer survival compared to compound heterozygous variants. In addition, biochemical and molecular heterogeneities in different tissues were frequently observed.\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\n                    <\/jats:italic>\n                    \u2010related epilepsy is clinically heterogeneous, and the prognosis is, in part, influenced by the location of the variants in the gene and the presence of hepatic involvement. Normal muscle and fibroblast studies do no exclude the diagnosis of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\n                    <\/jats:italic>\n                    \u2010related mitochondrial disease and direct sequencing of the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content>\n                    <\/jats:italic>\n                    gene should be the gold standard when investigating suspected cases.\n                  <\/jats:p>","DOI":"10.1111\/epi.13508","type":"journal-article","created":{"date-parts":[[2016,8,24]],"date-time":"2016-08-24T07:32:44Z","timestamp":1472023964000},"page":"1531-1545","source":"Crossref","is-referenced-by-count":82,"title":["Epilepsy due to mutations in the mitochondrial polymerase gamma\n                    <i>\n                      (\n                      <scp>POLG<\/scp>\n                      )\n                    <\/i>\n                    gene: A clinical and molecular genetic review"],"prefix":"10.1111","volume":"57","author":[{"given":"Maria\u2010Eleni","family":"Anagnostou","sequence":"first","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi Shiau","family":"Ng","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United 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