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Science. 1996 Mar 22;271(5256):1731-4.

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

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1
Department of Genetics, Stanford University School of Medicine, Standford, CA 94305, USA.

Abstract

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two mutations, a 3' splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patients but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.

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PMID:
8596935
[Indexed for MEDLINE]
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