{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T02:12:17Z","timestamp":1711419137085},"reference-count":10,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,25]]},"DOI":"10.7759\/cureus.56914","type":"journal-article","created":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T22:41:14Z","timestamp":1711406474000},"source":"Crossref","is-referenced-by-count":0,"title":["Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7)"],"prefix":"10.7759","author":[{"given":"Tamara N","family":"Kimball","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea G","family":"Garc\u00eda-Rueda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Rivero-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aar\u00f3n H","family":"P\u00e9rez-Segovia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis E","family":"Mayoral-Carrasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.811686","article-title":"Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview","volume":"13","author":"Simonati A","year":"2022","unstructured":"Simonati A, Williams RE. Neuronal ceroid lipofuscinosis: the multifaceted approach to the clinical issues, an overview. Front Neurol. 2022, 13:10.3389\/fneur.2022.811686","journal-title":"Front Neurol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020245","article-title":"Linear diagnostic procedure elicited by clinical genetics and validated by mRNA analysis in neuronal ceroid lipofuscinosis 7 associated with a novel non-canonical splice site variant in MFSD8","volume":"14","author":"Pasquetti D","year":"2023","unstructured":"Pasquetti D, Marangi G, Orteschi D, et al.. Linear diagnostic procedure elicited by clinical genetics and validated by mRNA analysis in neuronal ceroid lipofuscinosis 7 associated with a novel non-canonical splice site variant in MFSD8. Genes (Basel). 2023, 14:10.3390\/genes14020245","journal-title":"Genes (Basel)"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn366","article-title":"Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis","volume":"132","author":"Kousi M","year":"2009","unstructured":"Kousi M, Siintola E, Dvorakova L, et al.. Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009, 132:810-9. 10.1093\/brain\/awn366","journal-title":"Brain"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.33588\/rn.7310.2021174","article-title":"[Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations]","volume":"73","author":"Bravo-Oro A","year":"2021","unstructured":"Bravo-Oro A, Saavedra-Alan\u00eds VM, Reyes-Vaca JG, Espinosa-Tanguma R, Shiguetomi-Medina JM, Esmer C. [Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations]. Rev Neurol. 2021, 73:368-71. 10.33588\/rn.7310.2021174","journal-title":"Rev Neurol"},{"key":"ref6","unstructured":"Dissection of the genetic background of childhood onset progressive myoclonic epilepsies [Article in Finnish]. (2012). http.\/\/ethesis.helsinki.fi."},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624","article-title":"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses","volume":"33","author":"Kousi M","year":"2012","unstructured":"Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012, 33:42-63. 10.1002\/humu.21624","journal-title":"Hum Mutat"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0185-1","article-title":"Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging","volume":"10","author":"Aldahmesh MA","year":"2009","unstructured":"Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. Neurogenetics. 2009, 10:307-11. 10.1007\/s10048-009-0185-1","journal-title":"Neurogenetics"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0153-1","article-title":"A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis","volume":"10","author":"Stogmann E","year":"2009","unstructured":"Stogmann E, El Tawil S, Wagenstaller J, et al.. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics. 2009, 10:73-7. 10.1007\/s10048-008-0153-1","journal-title":"Neurogenetics"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.008","article-title":"NCL diseases - clinical perspectives","volume":"1832","author":"Schulz A","year":"2013","unstructured":"Schulz A, Kohlsch\u00fctter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013, 1832:1801-6. 10.1016\/j.bbadis.2013.04.008","journal-title":"Biochim Biophys Acta"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/228721-recognizing-lipofuscinosis-as-a-guide-in-antiepileptic-treatment-clinical-description-of-the-first-mexican-case-with-neuronal-ceroid-lipofuscinosis-type-7-ncl7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T22:41:18Z","timestamp":1711406478000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/228721-recognizing-lipofuscinosis-as-a-guide-in-antiepileptic-treatment-clinical-description-of-the-first-mexican-case-with-neuronal-ceroid-lipofuscinosis-type-7-ncl7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,25]]},"references-count":10,"URL":"https:\/\/doi.org\/10.7759\/cureus.56914","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3,25]]}}}