Amaral, O.Duarte, A.Pinto, E.Freitas, J.Chaves, J.2012-10-252012-10-252012-02http://hdl.handle.net/10400.18/1085Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004343Unverricht-Lundborg disease (ULD; MIM 254800) is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations (locus 21q22.3; MIM 601145), with cystatin B loss of function and subsequent loss of lysosomal association, have been described as the major cause of this disease.engDoenças GenéticasEpilepsiaCSTBconference object