{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:07:59Z","timestamp":1792098479611,"version":"4.4.0"},"reference-count":38,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T00:00:00Z","timestamp":1503532800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004257","name":"Western Norway Regional Health Authority","doi-asserted-by":"publisher","award":["911944"],"award-info":[{"award-number":["911944"]}],"id":[{"id":"10.13039\/501100004257","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004257","name":"Western Norway Regional Health Authority","doi-asserted-by":"publisher","award":["911903"],"award-info":[{"award-number":["911903"]}],"id":[{"id":"10.13039\/501100004257","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004257","name":"Western Norway Regional Health Authority","doi-asserted-by":"publisher","award":["911988"],"award-info":[{"award-number":["911988"]}],"id":[{"id":"10.13039\/501100004257","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005416","name":"Research Council of Norway","doi-asserted-by":"publisher","award":["240369\/F20"],"award-info":[{"award-number":["240369\/F20"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Epilepsy is common in polymerase gamma (POLG) related disease and is associated with high morbidity and mortality. Epileptiform discharges typically affect the occipital regions initially and focal seizures, commonly evolving to bilateral convulsive seizures which are the most common seizure types in both adults and children. Our work has shown that mtDNA depletion\u2014i.e., the quantitative loss of mtDNA\u2014in neurones is the earliest and most important factor of the subsequent development of cellular dysfunction. Loss of mtDNA leads to loss of mitochondrial respiratory chain (MRC) components that, in turn, progressively disables energy metabolism. This critically balanced neuronal energy metabolism leads to both a chronic and continuous attrition (i.e., neurodegeneration) and it leaves the neurone unable to cope with increased demand that can trigger a potentially catastrophic cycle that results in acute focal necrosis. We believe that it is the onset of epilepsy that triggers the cascade of damage. These events can be identified in the stepwise evolution that characterizes the clinical, Electroencephalography (EEG), neuro-imaging, and neuropathology findings. Early recognition with prompt and aggressive seizure management is vital and may play a role in modifying the epileptogenic process and improving survival.<\/jats:p>","DOI":"10.3390\/ijms18091845","type":"journal-article","created":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T08:44:54Z","timestamp":1503564294000},"page":"1845","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Understanding the Epilepsy in POLG Related Disease"],"prefix":"10.3390","volume":"18","author":[{"given":"Omar","family":"Hikmat","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Haukeland University Hospital, 5021 Bergen, Norway"},{"name":"Department of Clinical Medicine (K1), University of Bergen, 5020 Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Eichele","sequence":"additional","affiliation":[{"name":"K.G. Jebsen Center for Research on Neuropsychiatric Disorders, University of Bergen, 5009 Bergen, Norway"},{"name":"Department of Biological and Medical Psychology, University of Bergen, 5009 Bergen, Norway"},{"name":"Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalampos","family":"Tzoulis","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine (K1), University of Bergen, 5020 Bergen, Norway"},{"name":"Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Bindoff","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine (K1), University of Bergen, 5020 Bergen, Norway"},{"name":"Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,8,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/35072063","article-title":"The genetics and pathology of oxidative phosphorylation","volume":"2","author":"Smeitink","year":"2001","journal-title":"Nat. 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