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Article

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

13 Oct 2004

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Share to Genetics and Neurodevelopmental Disorders
Share to Glycogen Storage Diseases and Myoclonus
Share to Lysosomal Storage Disorders Research

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 15483648
DOI: 10.1038/sj.ejhg.5201300

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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.

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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutationsPMID 15483648Read ↗

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

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

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

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 ↗

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.Semantic proximity Read ↗

Unverricht‐Lundborg disease (EPM1)Semantic proximity Read ↗

New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions.Semantic proximity Read ↗

Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient MiceSemantic proximity Read ↗

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathySemantic proximity Read ↗

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