Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

doi:10.1016/j.jns.2021.117409

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Article

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Journal of the neurological sciences - 15 May 2021

Riva Antonella, Orsini Alessandro, Scala Marcello, Taramasso Vittoria, Canafoglia Laura, d'Orsi Giuseppe, Di Claudio Maria Teresa, Avolio Carlo, D'Aniello Alfredo, Elia Maurizio, Franceschetti Silvana, Di Gennaro Giancarlo, Bisulli Francesca, Tinuper Paolo, Tappatà Maria, Romeo Antonino, Freri Elena, Marini Carla, Costa Cinzia, Sofia Vito, Ferlazzo Edoardo, Magaudda Adriana, Veggiotti Pierangelo, Gennaro Elena, Pistorio Angela, Minetti Carlo, Bianchi Amedeo, Striano Salvatore, Michelucci Roberto, Zara Federico, Minassian Berge Arakel, Striano Pasquale

Abstract excerpt

BACKGROUND: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. This complex neurodegenerative condition is caused by pathogenic variants in EPM2A/EPM2B genes, encoding two essential glycogen metabolism enzymes known as laforin and malin. Long-term follow-up data are lacking. We describe the clinical features and genetic findings of a cohort of 26...

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PMID: 33773408
DOI: 10.1016/j.jns.2021.117409
PMCID: PMC8166462

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