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Epilepsy Res. 2012 Mar;99(1-2):187-90. doi: 10.1016/j.eplepsyres.2011.11.004. Epub 2011 Dec 10.

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

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Departamento de Genética--Unidade I&D-P DLS, CGMJM, Instituto Nacional de Saúde Ricardo Jorge, Porto, Portugal.


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.

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