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Article

Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.

International journal of molecular sciences - 20 Oct 2020

Burgos Daniel F, Cussó Lorena, Sánchez-Elexpuru Gentzane, Calle Daniel, Perpinyà Max Bautista, Desco Manuel, Serratosa José M, Sánchez Marina P

Abstract excerpt

Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging studies of patients with Lafora disease have shown different degrees of brain atrophy, decreased glucose brain uptake and alterations on different brain metabolites mainly in the frontal...

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Identifiers

PMID: 33092303
DOI: 10.3390/ijms21207771
PMCID: PMC7589150

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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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