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Article

Instability of the EPM1 minisatellite.

Human molecular genetics - 1 Oct 1999

Larson G P, Ding S, Lafrenière R G, Rouleau G A, Krontiris T G

Abstract excerpt

Inherited mutations in the cystatin B gene ( CSTB ) are responsible for progressive myoclonus epilepsy type 1 (EPM1; MIM 254800). This autosomal recessive disease is characterized by variable progression to mental retardation, dementia and ataxia. The majority of EPM1 alleles identified to date contain expansions of a dodecamer repeat located upstream of the transcription start site of the CSTB gene. Normal...

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Source

Identifiers

PMID: 10484766
DOI: 10.1093/hmg/8.11.1985

Genes

CSTB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Instability of the EPM1 minisatellite.PMID 10484766Read ↗

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 ↗

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.Semantic proximity Read ↗

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

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

Evolutionary fate of an unstable human minisatellite deduced from sperm-mutation spectra of individual alleles.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 ↗

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