Marina P. Sánchez

This study investigates early molecular mechanisms of Lafora disease using a mouse model, finding that neuronal hyperexcitability and impaired synaptic plasticity emerge early and can be mitigated by CBD treatment.

This study uses gene replacement therapy in Epm2a-/- mice to treat Lafora disease, showing improvements in neurological symptoms and reduced Lafora body formation.

This study shows that DYRK1A haploinsufficiency leads to impaired neocortical circuit development, contributing to neurological symptoms in a syndrome related to Down syndrome.