{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T12:11:23Z","timestamp":1791375083500,"version":"4.3.1"},"reference-count":64,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Super\u2010Refractory Status Epilepticus (SRSE) is a rare, life\u2010threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease\u2010causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We describe the detailed clinical, neurophysiological, neuroimaging, and molecular findings of a 19\u2010year\u2010old female with SRSE associated with compound heterozygous variants in\n                      <jats:italic>OPA1<\/jats:italic>\n                      , a key gene for mitochondrial inner membrane fusion and cristae maintenance. In addition, a literature review was performed, identifying 16 previously published cases reporting one or both of the variants observed in the present case.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Despite a longstanding history of generalized hypotonia, celiac disease, optic atrophy, cerebellar ataxia, and progressive motor decline, the proband had no prior history of seizures. She developed super\u2010refractory status epilepticus with occipital\u2010predominant epileptiform activity and MRI showing transient diffusion restriction in the right parieto\u2010occipital cortex and cerebellum. Genetic testing revealed a frameshift variant (p.Val903GlyfsTer3) and a missense variant (p.Ile382Met) in the GTPase domain, known to impair mitochondrial fusion. Unlike\n                      <jats:italic>POLG<\/jats:italic>\n                      or MELAS\u2010associated seizures, typically driven by severe mtDNA depletion and respiratory chain failure,\n                      <jats:italic>OPA1<\/jats:italic>\n                      dysfunction usually spares mtDNA copy number but disrupts mitochondrial dynamics. In severe biallelic loss\u2010of\u2010function, a \u201csecond\u2010hit\u201d stressor may trigger a diffuse energy crisis and catastrophic seizures.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This case of mitochondrial SRSE in a patient with no known infectious, autoimmune, or structural cause emphasizes the possible role of genetic background and mitochondrial disorders in the development of the disease. This case highlights a rare mitochondrial subtype of RSE, emphasizing the need to consider energy metabolism defects in unexplained refractory status epilepticus.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70287","type":"journal-article","created":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T12:31:13Z","timestamp":1770813073000},"page":"1543-1557","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Super\u2010Refractory Status Epilepticus (\n                    <scp>\n                      <b>SRSE<\/b>\n                    <\/scp>\n                    ) in a Patient With Compound Heterozygous\n                    <i>OPA1<\/i>\n                    Variants: Case Report and Literature Review"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7753-0910","authenticated-orcid":false,"given":"Pouria","family":"Mohammadi","sequence":"first","affiliation":[{"name":"Myelin Disorders Clinic, Children's Medical Centre, Paediatric Centre of Excellence Tehran University of Medical Sciences  Tehran Iran"},{"name":"Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Basovic","sequence":"additional","affiliation":[{"name":"Massachusetts General Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher Michael","family":"McGraw","sequence":"additional","affiliation":[{"name":"Northwestern University, Feinberg School of Medicine  Chicago Illinois USA"},{"name":"Massachusetts General Hospital, Harvard Medical School  Boston Massachusetts 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