Amaral, OlgaDuarte, Ana Joana2017-02-212017-02-212016-03-17Duarte AJ, Amaral O; CSTB: from cell to population and back, 12th international SPDM, P14: 92, 2016http://hdl.handle.net/10400.18/4343Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD, EPM1, OMIM #254800), a rare form of myoclonic epilepsy. In this work, we aimed at investigating this rare disease by first analyzing the patient results, then examining the population through a population screening and, finally, exploring the cellular phenotype in order to assess the involvement of lysosomes.engDoenças GenéticasCistatina BEpilepsiaUnverricht Lundborgconference objectna