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Page 1
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P. Orsini A, et al. Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23. Seizure. 2019. PMID: 31476531 Free PMC article. Review.
The gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. ...
The gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, …
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. Turnbull J, et al. Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. Epileptic Disord. 2016. PMID: 27702709 Free PMC article. Review.
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. ...
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B …
Progressive Myoclonus Epilepsies.
Kälviäinen R. Kälviäinen R. Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060909 Review.
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis of a …
The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal cero …
Progressive myoclonus epilepsy.
Girard JM, Turnbull J, Ramachandran N, Minassian BA. Girard JM, et al. Handb Clin Neurol. 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. Handb Clin Neurol. 2013. PMID: 23622396 Review.
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in which normal glycogen is transformed into s …
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with o …
Progressive myoclonic epilepsy.
Zupanc ML, Legros B. Zupanc ML, et al. Cerebellum. 2004;3(3):156-71. doi: 10.1080/14734220410035356. Cerebellum. 2004. PMID: 15543806 Review.
This article discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis and treatment of the most common causes of PME, including Unverricht-Lundborg Disease (Baltic Myoclonus), MERRF, neuronal ceroid lipofuscinosis, dentatorub …
This article discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis and treatment o …
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disord …
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumul …
FDG-PET assessment and metabolic patterns in Lafora disease.
Muccioli L, Farolfi A, Pondrelli F, d'Orsi G, Michelucci R, Freri E, Canafoglia L, Licchetta L, Toni F, Bonfiglioli R, Civollani S, Pettinato C, Maietti E, Marotta G, Fanti S, Tinuper P, Bisulli F. Muccioli L, et al. Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1576-1584. doi: 10.1007/s00259-019-04647-3. Epub 2019 Dec 19. Eur J Nucl Med Mol Imaging. 2020. PMID: 31858178
PURPOSE: To describe cerebral glucose metabolism pattern as assessed by (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) in Lafora disease (LD), a rare, lethal form of progressive myoclonus epilepsy caused by biallelic mutations in EPM2A or NHLRC1. .. …
PURPOSE: To describe cerebral glucose metabolism pattern as assessed by (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) in …
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
Ramachandran N, Girard JM, Turnbull J, Minassian BA. Ramachandran N, et al. Epilepsia. 2009 May;50 Suppl 5:29-36. doi: 10.1111/j.1528-1167.2009.02117.x. Epilepsia. 2009. PMID: 19469843 Free article. Review.
Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), action myoclonus-renal failure syndrome, and type III Gauc …
Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, t …
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. ...
55 results