{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T00:01:42Z","timestamp":1775260902278,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100010552","name":"Department of Health","doi-asserted-by":"publisher","award":["PFP00201-PERIS"],"award-info":[{"award-number":["PFP00201-PERIS"]}],"id":[{"id":"10.13039\/501100010552","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Carlos III Health Institute","doi-asserted-by":"publisher","award":["FI21\/0073"],"award-info":[{"award-number":["FI21\/0073"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.ejpn.2025.07.007","type":"journal-article","created":{"date-parts":[[2025,7,19]],"date-time":"2025-07-19T15:06:55Z","timestamp":1752937615000},"page":"20-26","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation"],"prefix":"10.1016","volume":"58","author":[{"given":"Laia","family":"Nou-Fontanet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uliana","family":"Musokhranova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alia Ram\u00edrez","family":"Camacho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2326-0071","authenticated-orcid":false,"given":"Ver\u00f3nica Delgadillo","family":"Chilavert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor Soto","family":"Insuga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa Arrabal","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itziar","family":"Alonso-Colmenero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Arzimanoglou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngeles Garc\u00eda","family":"Cazorla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Oyarzabal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Fons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ejpn.2025.07.007_bib2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1111\/cge.12813","article-title":"Characterization of SPATA5-related encephalopathy in early childhood","volume":"90","author":"Kurata","year":"2016","journal-title":"Clin. Genet."},{"issue":"1","key":"10.1016\/j.ejpn.2025.07.007_bib3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s13023-016-0509-9","article-title":"SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss","volume":"11","author":"Buchert","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ejpn.2025.07.007_bib4","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/s41431-017-0001-6","article-title":"Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency","volume":"26","author":"Puusepp","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2025.07.007_bib5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/5584_2016_206","article-title":"Isolated hearing impairment caused by SPATA5 mutations in a family with variable phenotypic expression","volume":"980","author":"Szcza\u0142uba","year":"2017","journal-title":"Adv. Exp. Med. Biol."},{"issue":"3","key":"10.1016\/j.ejpn.2025.07.007_bib6","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1038\/s41431-018-0299-8","article-title":"The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study","volume":"27","author":"Papuc","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ejpn.2025.07.007_bib7","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1684\/epd.2020.1204","article-title":"Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation","volume":"22","author":"Zanus","year":"2020","journal-title":"Epileptic Disord."},{"issue":"15","key":"10.1016\/j.ejpn.2025.07.007_bib8","doi-asserted-by":"crossref","first-page":"7835","DOI":"10.3390\/ijms22157835","article-title":"Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRS","volume":"22","author":"Braun","year":"2021","journal-title":"Int. J. Mol. Sci."},{"issue":"4","key":"10.1016\/j.ejpn.2025.07.007_bib9","first-page":"19","article-title":"\u041a\u043b\u0438\u043d\u0438\u0447\u043d\u0430 \u043a\u0430\u0440\u0442\u0438\u043d\u0430 \u0438 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u043d\u0438 \u043a\u043e\u0440\u0435\u043b\u0430\u20db\u0438\u0438 \u043f\u0440\u0438 \u0431\u044a\u043b\u0433\u0430\u0440\u0441\u043a\u0438 \u043f\u0430\u20db\u0438\u0435\u043d\u0442\u0438 \u0441 \u043c\u0443\u0442\u0430\u20db\u0438\u0438 \u043d\u0430 SPATA 5 \u0433\u0435\u043d. \u0420\u0435\u0434\u043a\u0438 \u0431\u043e\u043b\u0435\u0441\u0442\u0438 \u0438 \u043b\u0435\u043a\u0430\u0440\u0441\u0442\u0432\u0430 \u0441\u0438\u0440\u0430\u20db\u0438","volume":"11","author":"\u0421\u0442\u0430\u043d\u0447\u0435\u0432\u0430","year":"2020"},{"issue":"1","key":"10.1016\/j.ejpn.2025.07.007_bib10","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s40246-023-00463-x","article-title":"Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy","volume":"17","author":"Raggio","year":"2023","journal-title":"Hum. Genom."},{"issue":"13","key":"10.1016\/j.ejpn.2025.07.007_bib11","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2022.110597","volume":"38","author":"Ni","year":"2022","journal-title":"Cell Rep."},{"issue":"9","key":"10.1016\/j.ejpn.2025.07.007_bib12","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1016\/j.cell.2024.03.002","article-title":"The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity","volume":"187","author":"Krishnamoorthy","year":"2024","journal-title":"Cell"},{"issue":"6","key":"10.1016\/j.ejpn.2025.07.007_bib13","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/S1474-4422(08)70092-9","article-title":"The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial","volume":"7","author":"Neal","year":"2008","journal-title":"Lancet Neurol."},{"issue":"3","key":"10.1016\/j.ejpn.2025.07.007_bib14","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/epi.12069","article-title":"Use of the modified atkins diet for treatment of refractory childhood epilepsy: a randomized controlled trial","volume":"54","author":"Sharma","year":"2013","journal-title":"Epilepsia"},{"issue":"1","key":"10.1016\/j.ejpn.2025.07.007_bib15","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/j.1528-1167.2007.00915.x","article-title":"Anticonvulsant mechanisms of the ketogenic diet","volume":"48","author":"Bough","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejpn.2025.07.007_bib16","doi-asserted-by":"crossref","DOI":"10.1016\/j.biocel.2021.106050","article-title":"The ketogenic diet as a therapeutic intervention strategy in mitochondrial disease","volume":"138","author":"Qu","year":"2021","journal-title":"Int. J. Biochem. Cell Biol."},{"issue":"1","key":"10.1016\/j.ejpn.2025.07.007_bib17","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/s11064-018-2588-6","article-title":"A ketogenic diet improves mitochondrial biogenesis and bioenergetics via the PGC1\u03b1-SIRT3-UCP2 axis","volume":"44","author":"Hasan-Olive","year":"2019","journal-title":"Neurochem. Res."},{"issue":"2","key":"10.1016\/j.ejpn.2025.07.007_bib21","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/epi4.12225","article-title":"Optimal clinical management of children receiving dietary therapies for epilepsy: updated recommendations of the international ketogenic diet study group","volume":"3","author":"Kossoff","year":"2018","journal-title":"Epilepsia Open"},{"issue":"9","key":"10.1016\/j.ejpn.2025.07.007_bib18","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1038\/s41592-021-01234-z","article-title":"Automated segmentation and tracking of mitochondria in live-cell time-lapse images [published correction appears in nat methods. 2022 Jun;19(6):770]","volume":"18","author":"Lefebvre","year":"2021","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ejpn.2025.07.007_bib22","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.yebeh.2018.06.004","article-title":"Cognitive benefits of the ketogenic diet in patients with epilepsy: a systematic overview","volume":"87","author":"van Berkel","year":"2018","journal-title":"Epilepsy Behav."},{"issue":"10","key":"10.1016\/j.ejpn.2025.07.007_bib19","first-page":"1038","article-title":"Prospective study of ketogenic diet in treatment of children with global developmental delay","volume":"19","author":"Zhu","year":"2017","journal-title":"Zhong Guo Dang Dai Er Ke Za Zhi"},{"key":"10.1016\/j.ejpn.2025.07.007_bib20","article-title":"Is ketogenic diet a 'precision medicine'? Recent developments and future challenges","author":"Falsaperla","year":"2023","journal-title":"Eur. J. Paediatr. Neurol."}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379825001163?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379825001163?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T01:32:13Z","timestamp":1772760733000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379825001163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":21,"alternative-id":["S1090379825001163"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2025.07.007","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2025.07.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}