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A <jats:italic>Cstb<\/jats:italic>\u2010deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability. These findings set the stage for future studies that may open avenues to improved therapeutic approaches.<\/jats:p>","DOI":"10.1684\/epd.2016.0841","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":46,"title":["Unverricht\u2010Lundborg disease"],"prefix":"10.1002","volume":"18","author":[{"given":"Arielle","family":"Crespel","sequence":"first","affiliation":[{"name":"Epilepsy Unit, H\u00f4pital Gui\u2010de\u2010Chauliac, Research Unit \u2018Movement Disorders\u2019 (URMA), Department of Neurobiology Institute of Functional Genomics  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edoardo","family":"Ferlazzo","sequence":"additional","affiliation":[{"name":"Magna Graecia University of Catanzaro, Department of Medical and Surgical Sciences  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Centre IRCCS Foundation C. Besta Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Genton","sequence":"additional","affiliation":[{"name":"Hopital Henri\u2010Gastaut  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riadh","family":"Gouider","sequence":"additional","affiliation":[{"name":"Department of Neurology, EPS Charles\u2010Nicolle  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reetta","family":"K\u00e4lvi\u00e4inen","sequence":"additional","affiliation":[{"name":"University of Eastern Finland  Kuopio Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miikka","family":"Korja","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery University of Helsinki and Helsinki University Hospital  Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria 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