{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:12:53Z","timestamp":1740136373511,"version":"3.37.3"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T00:00:00Z","timestamp":1734998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T00:00:00Z","timestamp":1734998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ministero della Salute"],"award-info":[{"award-number":["Ministero della Salute"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1007\/s10072-024-07957-z","type":"journal-article","created":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T00:47:54Z","timestamp":1735001274000},"page":"1395-1398","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants"],"prefix":"10.1007","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7781-653X","authenticated-orcid":false,"given":"Vidal","family":"Yahya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Celato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Botti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Guez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9056-4122","authenticated-orcid":false,"given":"Elisa","family":"Scola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Del Bo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6478-026X","authenticated-orcid":false,"given":"Alessio","family":"Di Fonzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1064-1840","authenticated-orcid":false,"given":"Robertino","family":"Dilena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,24]]},"reference":[{"key":"7957_CR1","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1016\/j.ajhg.2014.03.003","volume":"94","author":"X Zhang","year":"2014","unstructured":"Zhang X, Ling J, Barcia G et al (2014) Mutations in QARS, encoding glutaminyl-trna synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet 94:547\u2013558. https:\/\/doi.org\/10.1016\/j.ajhg.2014.03.003","journal-title":"Am J Hum Genet"},{"key":"7957_CR2","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/jhg.2014.103","volume":"60","author":"H Kodera","year":"2015","unstructured":"Kodera H, Osaka H, Iai M et al (2015) Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet 60:97\u2013101. https:\/\/doi.org\/10.1038\/jhg.2014.103","journal-title":"J Hum Genet"},{"key":"7957_CR3","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s10048-017-0516-6","volume":"18","author":"E Leshinsky-Silver","year":"2017","unstructured":"Leshinsky-Silver E, Ling J, Wu J et al (2017) Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation. Neurogenetics 18:141\u2013146. https:\/\/doi.org\/10.1007\/s10048-017-0516-6","journal-title":"Neurogenetics"},{"key":"7957_CR4","doi-asserted-by":"publisher","unstructured":"Johannesen KM, Mitter D, Janowski R et al (2019) Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurol Genet 5. https:\/\/doi.org\/10.1212\/NXG.0000000000000373","DOI":"10.1212\/NXG.0000000000000373"},{"key":"7957_CR5","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.braindev.2021.10.009","volume":"44","author":"DL Chan","year":"2022","unstructured":"Chan DL, Rudinger-Thirion J, Frugier M et al (2022) A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders. Brain Dev 44:142\u2013147. https:\/\/doi.org\/10.1016\/j.braindev.2021.10.009","journal-title":"Brain Dev"},{"key":"7957_CR6","doi-asserted-by":"publisher","unstructured":"Mao B, Lin N, Guo D et al (2023) Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy. Front Neurosci 17. https:\/\/doi.org\/10.3389\/fnins.2023.1165601","DOI":"10.3389\/fnins.2023.1165601"},{"key":"7957_CR7","doi-asserted-by":"publisher","first-page":"2202","DOI":"10.1038\/s41436-021-01249-z","volume":"23","author":"G Kok","year":"2021","unstructured":"Kok G, Tseng L, Schene IF et al (2021) Treatment of ARS deficiencies with specific amino acids. Genet Med 23:2202\u20132207. https:\/\/doi.org\/10.1038\/s41436-021-01249-z","journal-title":"Genet Med"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07957-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-024-07957-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-024-07957-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T07:37:29Z","timestamp":1739518649000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-024-07957-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,24]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["7957"],"URL":"https:\/\/doi.org\/10.1007\/s10072-024-07957-z","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2024,12,24]]},"assertion":[{"value":"15 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient was enrolled in the Epiexome Research Project, a prospective study on genetic epilepsy approved by the Ethics Committee of the Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico (Milan, Italy).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors have no competing interests to declare that are relevant to the content of this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}