Duarte, Ana JoanaRibeiro, DiogoChaves, JoãoAmaral, Olga2016-02-182015-07Mol Genet Metab Rep. 2015; 4: 68-71. doi:10.1016/j.ymgmr.2015.07.0052214-4269http://hdl.handle.net/10400.18/3415AJD received a small SPDM/Genzyme grant awardCystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66GNA; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of thismutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and add to the knowledge on this disease.engDoenças GenéticasRare DiseasesLysosomal DisordersUnverricht-Lundborg DiseaseEpilepsyMolecular and Cellular Biologyjournal article10.1016/j.ymgmr.2015.07.005