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Article

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

Epilepsy research - 1 Mar 2012

Pinto Eugénia, Freitas Joel, Duarte Ana Joana, Ribeiro Isaura, Ribeiro Diogo, Lima J Lopes, Chaves João, Amaral Olga

Abstract excerpt

Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a...

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Identifiers

PMID: 22154554
DOI: 10.1016/j.eplepsyres.2011.11.004

Genes

CSTB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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