{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:42:25Z","timestamp":1777804945653,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,6,22]],"date-time":"2025-06-22T00:00:00Z","timestamp":1750550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Neuronal ceroid lipofuscinoses are rare, inherited lysosomal storage disorders characterized by progressive neurodegeneration due to aberrant lysosomal function. This study presents 2 cases of CLN7 and CLN8, illustrating the genetic and clinical heterogeneity of neuronal ceroid lipofuscinoses. The first case involves a patient with CLN7, manifesting developmental regression, epilepsy, and motor impairment. The second case presents CLN8, marked by progressive cognitive decline, intractable seizures, and motor dysfunction. Whole exome sequencing confirmed pathogenic mutations in both cases, reinforcing the critical role of genetic diagnostics in precise disease classification. These cases emphasize the necessity of early genetic screening for timely intervention and accurate neuronal ceroid lipofuscinosis subtype classification, which is vital for prognosis and personalized management. Multidisciplinary care, including genetic counseling, neurologic assessment, and supportive therapies, is paramount in optimizing patient outcomes. Documenting these cases contributes to a deeper understanding of neuronal ceroid lipofuscinosis phenotypic variability, supporting ongoing research into genotype-phenotype correlations and potential disease-modifying therapies.<\/jats:p>","DOI":"10.1177\/08830738251346920","type":"journal-article","created":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T07:32:18Z","timestamp":1750663938000},"page":"89-93","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Unraveling Neuronal Ceroid Lipofuscinosis: Insights From Two Pediatric Cases in Peripheral India"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0927-5062","authenticated-orcid":false,"given":"Nadir","family":"Aman","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Utage Child Development Centre, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4482-475X","authenticated-orcid":false,"given":"Aishwarya Gurudath","family":"Panapil","sequence":"additional","affiliation":[{"name":"Strand Life Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0097-9434","authenticated-orcid":false,"given":"Prashant","family":"Utage","sequence":"additional","affiliation":[{"name":"Pediatrician, Utage Child Development Centre, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,6,22]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30368-5"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1712649"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.05.011"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/376584a0"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000267885.47092.40"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40263-019-00620-8"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/21678707.2019.1684258"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.811686"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.008"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0153-1"},{"key":"e_1_3_3_15_2","unstructured":"TOPMed NHLBI Trans-Omics for Precision Medicine. 2023. Variant reports and allele frequencies. https:\/\/bravo.sph.umich.edu\/freeze8\/hg38\/."}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251346920","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251346920","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251346920","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:44Z","timestamp":1777495304000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251346920"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,22]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1177\/08830738251346920"],"URL":"https:\/\/doi.org\/10.1177\/08830738251346920","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,22]]}}}