Associated Papers
The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.
Muccioli L et al.
Epilepsia Open, 2025
Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.
d'Orsi G et al.
Orphanet Journal of Rare Diseases, 2025
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.
Jara-Prado A et al.
Epilepsy Research, 2014
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S et al.
Epilepsia, 2006
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