Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3052454 | Epilepsy Research | 2012 | 4 Pages |
Abstract
SummaryUnverricht–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.
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Authors
Eugénia Pinto, Joel Freitas, Ana Joana Duarte, Isaura Ribeiro, Diogo Ribeiro, J. Lopes Lima, João Chaves, Olga Amaral,