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Article

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.

Neurology - 14 Apr 2015

Hyppönen Jelena, Äikiä Marja, Joensuu Tarja, Julkunen Petro, Danner Nils, Koskenkorva Päivi, Vanninen Ritva, Lehesjoki Anna-Elina, Mervaala Esa, Kälviäinen Reetta

Abstract excerpt

OBJECTIVE: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the extensive variability in the clinical severity of the symptoms observed among patients with Unverricht-Lundborg disease (progressive myoclonus epilepsy type 1 [EPM1]) homozygous for the dodecamer expansion mutation in the cystatin B (CSTB) gene. METHODS: The study population...

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Identifiers

PMID: 25770194
DOI: 10.1212/WNL.0000000000001466

Genes

CSTB

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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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