{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T17:50:45Z","timestamp":1773856245158,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T00:00:00Z","timestamp":1611187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The study aims to characterize the epilepsy phenotype of<jats:styled-content>m<\/jats:styled-content>aternally<jats:styled-content>i<\/jats:styled-content>nherited<jats:styled-content>L<\/jats:styled-content>eigh's<jats:styled-content>s<\/jats:styled-content>yndrome (MILS) and<jats:styled-content>n<\/jats:styled-content>europathy,<jats:styled-content>a<\/jats:styled-content>taxia,<jats:styled-content>r<\/jats:styled-content>etinitis<jats:styled-content>p<\/jats:styled-content>igmentosa (NARP) due to mutations in the mitochondrial<jats:italic>ATP6<\/jats:italic>gene and to correlate electroclinical features with mutant heteroplasmy load (HL). We investigated 17 individuals with different phenotype, from asymptomatic carriers to MILS: 11 carried the m.8993T&gt;\u00a0G mutation, 5 the m.8993T&gt;\u00a0C and one the novel,<jats:italic>de novo<\/jats:italic>m.8858G&gt;\u00a0A mutation. Seizures occurred in 37.5% of patients, EEG abnormalities in 73%. We ranked clinical and EEG abnormalities severity and performed quantitative EEG to estimate Abnormality Ratio (AR) and Spectral Relative Power (SRP). Spearman\u2019s rho and Kruskal\u2013Wallis test were used for correlation with heteroplasmy load (HL). HL correlated with disease severity (Rho\u00a0=\u00a00.63,<jats:italic>P<\/jats:italic>\u00a0=\u00a00.012) and was significantly higher in patients with seizures or EEG abnormalities (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.014). HL correlated with EEG severity score only for the m.8993T&gt;\u00a0G (Rho\u00a0=\u00a00.73,<jats:italic>P<\/jats:italic>\u00a0=\u00a00.040), showing a trend toward a positive correlation with AR and delta SPR, irrespective of the mutation.<\/jats:p>","DOI":"10.1002\/acn3.51259","type":"journal-article","created":{"date-parts":[[2021,1,21]],"date-time":"2021-01-21T20:24:30Z","timestamp":1611260670000},"page":"704-710","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Epilepsy in<i>MT<\/i>\u2010<i>ATP6<\/i>\u2010 related mils\/NARP: correlation of elettroclinical features with heteroplasmy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7979-9895","authenticated-orcid":false,"given":"Laura","family":"Licchetta","sequence":"first","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Full Member of the ERN EpiCARE Bologna Italia"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Ferri","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"La Morgia","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Full Member of the ERN EpiCARE Bologna Italia"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrado","family":"Zenesini","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Full Member of the ERN EpiCARE Bologna 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Italia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Avoni","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Full Member of the ERN EpiCARE Bologna Italia"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Full Member of the ERN EpiCARE Bologna Italia"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Tinuper","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Full Member of the ERN EpiCARE Bologna Italia"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna 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