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Lafora disease: epidemiology, pathophysiology and management.
Monaghan TS, Delanty N. Monaghan TS, et al. CNS Drugs. 2010 Jul;24(7):549-61. doi: 10.2165/11319250-000000000-00000. CNS Drugs. 2010. PMID: 20527995 Review.
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. ...Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. ...
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. ...Therapy in La …
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission. Riva A, et al. J Neurol Sci. 2021 May 15;424:117409. doi: 10.1016/j.jns.2021.117409. Epub 2021 Mar 20. J Neurol Sci. 2021. PMID: 33773408 Free PMC article.
BACKGROUND: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. ...Twelve out of the 26 (46%) patients preserved walking ability and 13 (50%) maintained speech. A slower disease progression w …
BACKGROUND: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deteriora …
Treatment with metformin in twelve patients with Lafora disease.
Bisulli F, Muccioli L, d'Orsi G, Canafoglia L, Freri E, Licchetta L, Mostacci B, Riguzzi P, Pondrelli F, Avolio C, Martino T, Michelucci R, Tinuper P. Bisulli F, et al. Orphanet J Rare Dis. 2019 Jun 21;14(1):149. doi: 10.1186/s13023-019-1132-3. Orphanet J Rare Dis. 2019. PMID: 31227012 Free PMC article.
BACKGROUND: Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. ...METHODS: We retrospectively collected data on LD patients treated with metformin referred to three Italian epi …
BACKGROUND: Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy …
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S, Delgado-Escueta AV, Suzuki T, Francheschetti S, Riggio C, Avanzini G, Rabinowicz A, Bohlega S, Bailey J, Alonso ME, Rasmussen A, Thomson AE, Ochoa A, Prado AJ, Medina MT, Yamakawa K. Ganesh S, et al. Hum Mol Genet. 2002 May 15;11(11):1263-71. doi: 10.1093/hmg/11.11.1263. Hum Mol Genet. 2002. PMID: 12019207
Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause an autosomal recessive fatal disorder called Lafora's disease (LD) classically described as an adolescent-onset stimulus-sensitive myoclonus, epilepsy and neurologic deteriora …
Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause an autosomal recessive fatal disorder called Lafora …