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Article

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

Nature - 24 Apr 1997

Lalioti M D, Scott H S, Buresi C, Rossier C, Bottani A, Morris M A, Malafosse A, Antonarakis S E

Abstract excerpt

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder with onset between 6 and 13 years followed by variable progression to mental deterioration and cerebellar ataxia. It is a rare disorder but more common in Finland (1 in 20,000) and the western Mediterranean. Two point mutations in the cysteine proteinase inhibitor gene cystatin B (CSTB), proved...

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Source

Identifiers

PMID: 9126745
DOI: 10.1038/386847a0

Genes

CSTB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.PMID 9126745Read ↗

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

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

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.Semantic proximity Read ↗

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

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 ↗

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.Semantic proximity Read ↗

Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.Semantic proximity Read ↗

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

A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.Semantic proximity Read ↗

The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online.Semantic proximity Read ↗

Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.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 ↗

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