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Lafora disease - from pathogenesis to treatment strategies.
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Nitschke F, et al. Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Nat Rev Neurol. 2018. PMID: 30143794 Free PMC article. Review.
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function m …
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously h …
Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.
Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LEA, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS. Donohue KJ, et al. Neurotherapeutics. 2023 Oct;20(6):1808-1819. doi: 10.1007/s13311-023-01434-9. Epub 2023 Sep 12. Neurotherapeutics. 2023. PMID: 37700152 Free PMC article.
Patients with Lafora disease have a mutation in EPM2A or EPM2B, resulting in dysregulation of glycogen metabolism throughout the body and aberrant glycogen molecules that aggregate into Lafora bodies. ...This work provides proof of concept that a Gys1-ASO halts dise …
Patients with Lafora disease have a mutation in EPM2A or EPM2B, resulting in dysregulation of glycogen metabolism throughout t …
Lafora disease: a case report.
Zeka N, Zogaj L, Gerguri A, Bejiqi R, Ratkoceri R, Maloku A, Mustafa A, Shahini L, Maxharaj J. Zeka N, et al. J Med Case Rep. 2022 Oct 3;16(1):360. doi: 10.1186/s13256-022-03537-x. J Med Case Rep. 2022. PMID: 36192771 Free PMC article.
BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. ...Consequently, the child was referred to an advanced center for genetic testing, which also confirmed diagnosis of Lafora disease with a positive mutation o …
BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. ...Consequently, the child was r …
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. ...Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently …
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. ...Diagnostic findings on MRI and neurop …
Antibody-Mediated Enzyme Therapeutics and Applications in Glycogen Storage Diseases.
Zhou Z, Austin GL, Shaffer R, Armstrong DD, Gentry MS. Zhou Z, et al. Trends Mol Med. 2019 Dec;25(12):1094-1109. doi: 10.1016/j.molmed.2019.08.005. Epub 2019 Sep 12. Trends Mol Med. 2019. PMID: 31522955 Free PMC article. Review.
Exciting developments are currently underway for AEFs in the treatment of the GSDs Pompe disease and Lafora disease (LD). Antibody-based therapies are quickly becoming an integral part of modern disease therapeutics....
Exciting developments are currently underway for AEFs in the treatment of the GSDs Pompe disease and Lafora disease (LD). Anti …
Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.
Brewer MK, Uittenbogaard A, Austin GL, Segvich DM, DePaoli-Roach A, Roach PJ, McCarthy JJ, Simmons ZR, Brandon JA, Zhou Z, Zeller J, Young LEA, Sun RC, Pauly JR, Aziz NM, Hodges BL, McKnight TR, Armstrong DD, Gentry MS. Brewer MK, et al. Cell Metab. 2019 Oct 1;30(4):689-705.e6. doi: 10.1016/j.cmet.2019.07.002. Epub 2019 Jul 25. Cell Metab. 2019. PMID: 31353261 Free PMC article.
Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. ...
Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. ...
Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model.
Mollá B, Heredia M, Campos Á, Sanz P. Mollá B, et al. Mol Neurobiol. 2022 Oct;59(10):6018-6032. doi: 10.1007/s12035-022-02956-7. Epub 2022 Jul 14. Mol Neurobiol. 2022. PMID: 35835895 Free PMC article.
Lafora disease (LD) is a fatal rare neurodegenerative disorder that affects young adolescents and has no treatment yet. ...Therefore, our study suggests that both therapeutical strategies could be beneficial for the treatment of LD patients. A mouse model of Lafo …
Lafora disease (LD) is a fatal rare neurodegenerative disorder that affects young adolescents and has no treatment yet. ...The …
Lafora disease.
Madhavan D, Kuzniecky RI. Madhavan D, et al. Rev Neurol Dis. 2006 Summer;3(3):131-5. Rev Neurol Dis. 2006. PMID: 17047580
Lafora disease (LD) is an autosomal recessive disorder characterized by seizures and progressive neurologic deterioration, and is usually fatal within 10 years of onset. ...At a recent medical evaluation, he reported having clusters of generalized tonic-clonic seizu …
Lafora disease (LD) is an autosomal recessive disorder characterized by seizures and progressive neurologic deterioration, and …
Efficacy and tolerability of perampanel in ten patients with Lafora disease.
Goldsmith D, Minassian BA. Goldsmith D, et al. Epilepsy Behav. 2016 Sep;62:132-5. doi: 10.1016/j.yebeh.2016.06.041. Epub 2016 Jul 25. Epilepsy Behav. 2016. PMID: 27459034 Free PMC article. Clinical Trial.
Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus epilepsy. ...
Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus epilepsy. ...
Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.
Sanz P, Serratosa JM, Sánchez MP. Sanz P, et al. Int J Mol Sci. 2021 May 19;22(10):5351. doi: 10.3390/ijms22105351. Int J Mol Sci. 2021. PMID: 34069559 Free PMC article. Review.
In this work, we review the beneficial effects of this drug as a neuroprotective agent in different neurological diseases, with a special focus on epileptic disorders and Lafora disease, a particular type of progressive myoclonus epilepsy. ...
In this work, we review the beneficial effects of this drug as a neuroprotective agent in different neurological diseases, with a special fo …
25 results