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Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene
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Orientador(es)
Resumo(s)
Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.
Descrição
AJD and DR are both recipients of FCT grants.
Palavras-chave
Doenças Genéticas Epilepsia Epilepsy Cistatina
Contexto Educativo
Citação
Epilepsy Res. 2011 Dec 9. [Epub ahead of print]