Duarte, Ana JoanaRibeiro, DiogoChaves, JoaoAmaral, Olga2013-05-242013-05-242013-03-21http://hdl.handle.net/10400.18/1579Abstrat publiacdo em IX SPDM, 107.Epilepsy is a common finding in metabolic diseases and in lysosomal diseases in particular.Unverricht-Lundborg disease (ULD; MIM #601145) is a Progressive Myoclonic Epilepsy caused by mutations in the Cystatin B gene (CSTB) and leading to the impaired action of this intracellular proteinase inhibitor which reversibly binds cathepsins. A unique patient homozygous for mutation p.Q22Q, r.[66g>a,65_66ins66+364pb], which affects normal splicing and gives rise to two cDNA transcripts (normal and abnormal), was recently described. CSTB is ubiquitously expressed, the 98 aminoacid peptide can have nuclear, cytoplasmatic and lysosomal localization. The cellular location varies among different types of cells.engDoenças GenéticasGenética HumanaHuman GeneticsCSTBCystatin BMyoclonic epilepsyconference object