Neuronal Hyperexcitability: A Key to Unravelling Hippocampal Synaptic Dysfunctions in Lafora Disease

Abstract excerpt

Lafora disease (LD) is a rare progressive disorder caused by mutations in the EPM2A or EPM2B genes, characterized by the accumulation of Lafora bodies, drug-resistant epilepsy, and cognitive decline. To investigate the early molecular mechanisms of LD, we studied electrophysiological changes in the dentate gyrus (DG) of the Epm2aR240X knock-in mouse model at various ages. Electrophysiological recordings measured n...

Topics

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• Glycogen
• Glycogen Storage Diseases and Myoclonus
• Inclusion Bodies
• Lafora Disease
• Mutation
• Neurons
• Protein Tyrosine Phosphatases, Non-Receptor
• Ubiquitin-Protein Ligases

Identifiers and source

Literature Corpus work

12a37e38-88e5-5f6d-92e4-47ddee2df1c5

DOI

10.1101/2025.04.23.650182