{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T22:29:37Z","timestamp":1778711377724,"version":"3.51.4"},"reference-count":23,"publisher":"Georg Thieme Verlag KG","issue":"05","license":[{"start":{"date-parts":[[2024,5,19]],"date-time":"2024-05-19T00:00:00Z","timestamp":1716076800000},"content-version":"vor","delay-in-days":18,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"BioMarin Pharmacetical Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay\/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the TPP1 gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for patients with CLN2. Epilepsy is a common and clinically-identifiable feature among NCLs, and seizure onset is the main driver for families to seek medical care.<\/jats:p><jats:p>\n          Objective\u2003To evaluate the results of the Latin America Epilepsy and Genetics Program, an epilepsy gene panel, as a comprehensive tool for the investigation of CLN2 among other genetic causes of epilepsy.<\/jats:p><jats:p>\n          Methods\u2003A total of 1,284 patients with epilepsy without a specific cause who had at least 1 symptom associated with CLN2 were screened for variants in 160 genes associated with epilepsy or metabolic disorders presenting with epilepsy through an epilepsy gene panel.<\/jats:p><jats:p>\n          Results\u2003Variants of the TPP1 gene were identified in 25 individuals (1.9%), 21 of them with 2 variants. The 2 most frequently reported variants were p.Arg208* and p.Asp276Val, and 2 novel variants were detected in the present study: p.Leu308Pro and c.89\u2009+\u20093G\u2009&gt;\u2009C Intron 2.<\/jats:p><jats:p>\n          Conclusion\u2003The results suggest that these genetic panels can be very useful tools to confirm or exclude CLN2 diagnosis and, if confirmed, provide disease-specific treatment for the patients.<\/jats:p>","DOI":"10.1055\/s-0044-1786854","type":"journal-article","created":{"date-parts":[[2024,5,19]],"date-time":"2024-05-19T22:33:40Z","timestamp":1716158020000},"page":"001-008","source":"Crossref","is-referenced-by-count":4,"title":["A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease"],"prefix":"10.1055","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2296-6098","authenticated-orcid":false,"given":"Charles Marques","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina de S\u00e3o Jos\u00e9 do Rio Preto, S\u00e3o Jos\u00e9 do Rio Preto SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7206-4447","authenticated-orcid":false,"given":"Juliana Maria Ferraz","family":"Sallum","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo, Escola Paulista de Medicina, Departamento de Oftalmologia e Ci\u00eancias Visuais, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0281-3980","authenticated-orcid":false,"given":"Alessandra Marques","family":"Pereira","sequence":"additional","affiliation":[{"name":"Hospital Moinhos de Vento, Porto Alegre RS, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7330-293X","authenticated-orcid":false,"given":"Paula Natale","family":"Girotto","sequence":"additional","affiliation":[{"name":"Santa Casa de S\u00e3o Paulo, Faculdade de Ci\u00eancias M\u00e9dicas, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7577-9122","authenticated-orcid":false,"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Mendelics An\u00e1lise Gen\u00f4mica, S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2100-7987","authenticated-orcid":false,"given":"Daniel Reda Fenga","family":"Vilela","sequence":"additional","affiliation":[{"name":"BioMarin Brasil Farmac\u00eautica Ltda., S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-1181-5574","authenticated-orcid":false,"given":"Erika","family":"Barron","sequence":"additional","affiliation":[{"name":"BioMarin Brasil Farmac\u00eautica Ltda., S\u00e3o Paulo SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0043-5373","authenticated-orcid":false,"given":"Andr\u00e9","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Hospital Albert Sabin, Fortaleza CE, Brazil."},{"name":"Universidade Estadual do Cear\u00e1, Fortaleza CE, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2679-6858","authenticated-orcid":false,"given":"Bibiana Mello de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,5,19]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/JNEN\/62.1.1","article-title":"The neuronal ceroid-lipofuscinoses","volume":"62","author":"M Haltia","year":"2003","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"920421","DOI":"10.3389\/FNEUR.2022.920421\/BIBTEX","article-title":"Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview","volume":"13","author":"G Guelbert","year":"2022","journal-title":"Front 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