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Article

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

22 Mar 1996

Abstract excerpt

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...

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Identifiers

PMID: 8596935
DOI: 10.1126/science.271.5256.1731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)PMID 8596935Read ↗

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.Semantic proximity Read ↗

Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.Semantic proximity Read ↗

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).Semantic proximity Read ↗

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.Semantic proximity Read ↗

Progressive myoclonus epilepsy of Unverricht-Lundborg type.Semantic proximity Read ↗

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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutationsSemantic proximity Read ↗

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.Semantic proximity Read ↗

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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.Semantic proximity Read ↗

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