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Publicação
Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy
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Orientador(es)
Resumo(s)
Unverricht-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.
Descrição
Publicado em: Molecular Genetics and Metabolism 105 (2012) S15–S69. Disponível em: http://www.sciencedirect.com/science/article/pii/S1096719211004343
Palavras-chave
Doenças Genéticas Epilepsia CSTB