{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T13:09:35Z","timestamp":1778936975076,"version":"3.51.4"},"reference-count":53,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T00:00:00Z","timestamp":1770681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T00:00:00Z","timestamp":1770681600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Sialidosis type I (ST\u20101) is an autosomal\u2010recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in\n                      <jats:italic>NEU1<\/jats:italic>\n                      . It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic\u2013clonic seizures (BTCS), and distinctive ophthalmological findings. Given the lack of curative options, in this study, we investigated symptomatic treatment strategies, with a particular focus on the efficacy of antiseizure medications (ASMs).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We describe the clinical course of a patient followed from diagnosis to 18\u2009years of age, and review seven additional cases from our cohort. In parallel, we conducted a narrative review of the literature (PubMed, January 2010\u2013September 2025) to identify published reports containing therapeutic data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Therapeutic responses were evaluated in a total of 33 cases (8 from our cohort, 25 from published sources). Although available data are insufficient to define standardized treatment guidelines, some ASMs, such as ACZ, PER, LEV, VPA, CZP, and ZNS, demonstrated fairly consistent efficacy in managing MS and BTCS. Sodium oxybate or deep\u2010brain stimulation may be considered in refractory cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>Prospective documentation of clinical course and treatment outcomes\u2014ideally through an international registry\u2014is crucial to improve patient care and inform therapeutic strategies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Plain Language Summary<\/jats:title>\n                    <jats:p>Sialidosis type I (ST\u20101) is a very rare genetic disorder causing movement problems and seizures, with no cure available yet. We followed 8 patients and reviewed 25 published cases to assess treatments focusing on myoclonic seizure (MS) control. Some antiseizure medications showed benefit. However, we have too little data to make clear recommendations. To improve patients' treatment and to choose the most appropriate therapy, it would be important to follow patients over a longer period of time, for example, in an international registry.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi4.70233","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T14:22:21Z","timestamp":1770733341000},"page":"577-591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sialidosis type I: How to alleviate disabling myoclonic seizures?\u2014A multicenter analysis of eight cases and review of the literature"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1827-1434","authenticated-orcid":false,"given":"Janina","family":"Gburek\u2010Augustat","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology University Hospital for Children  Leipzig 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Medicine  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Adarmes\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"Unidad de Trastornos del Movimiento Servicio de Neurolog\u00eda, Instituto de Biomedicina de Sevilla, IBiS\/Hospital Universitario Virgen Del Roc\u00edo\/Universidad de Sevilla  Sevilla Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Macias\u2010Garcia","sequence":"additional","affiliation":[{"name":"Unidad de Trastornos del Movimiento Servicio de Neurolog\u00eda, Instituto de Biomedicina de Sevilla, IBiS\/Hospital Universitario Virgen Del Roc\u00edo\/Universidad de Sevilla  Sevilla Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 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