Article
Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1).
Seizure - 1 Jan 2011
Danner Nils, Julkunen Petro, Könönen Mervi, Hyppönen Jelena, Koskenkorva Päivi, Vanninen Ritva, Lehesjoki Anna-Elina, Kälviäinen Reetta, Mervaala Esa
Abstract excerpt
PURPOSE: Unverricht-Lundborg disease (EPM1) is the most common form of progressive myoclonus epilepsies. The genetic background is a homozygous dodecamer repeat extension mutation in the cystatin B (CSTB) gene. However, mutations occurring in a compound heterozygous form with the expansion mutation have also been reported. In Finland, we have found five EPM1 patients compound heterozygous for the dodecamer repeat...
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