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Page 1
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.
Zimmern V, Minassian B. Zimmern V, et al. Genes (Basel). 2024 Jan 27;15(2):171. doi: 10.3390/genes15020171. Genes (Basel). 2024. PMID: 38397161 Free PMC article.
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable timeframe. While each of the disorders is individually rare, they collectively make up a non-triv …
The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seiz …
Glycogen metabolism and structure: A review.
Neoh GKS, Tan X, Chen S, Roura E, Dong X, Gilbert RG. Neoh GKS, et al. Carbohydr Polym. 2024 Dec 15;346:122631. doi: 10.1016/j.carbpol.2024.122631. Epub 2024 Aug 17. Carbohydr Polym. 2024. PMID: 39245499 Free article. Review.
The review also discusses GSD type XV and Lafora disease, illustrating the broader implications of aberrant glycogen metabolism and structure. ...
The review also discusses GSD type XV and Lafora disease, illustrating the broader implications of aberrant glycogen metabolis …
Lafora disease: Current biology and therapeutic approaches.
Mitra S, Gumusgoz E, Minassian BA. Mitra S, et al. Rev Neurol (Paris). 2022 Apr;178(4):315-325. doi: 10.1016/j.neurol.2021.06.006. Epub 2021 Jul 21. Rev Neurol (Paris). 2022. PMID: 34301405 Free PMC article. Review.
However, little is known about its role in neurodegenerative diseases due to disturbances of glycogen metabolism such as Lafora disease (LD). In LD, insufficiently branched and long-chained glycogen forms and precipitates into insoluble polyglucosan bodies (Lafor …
However, little is known about its role in neurodegenerative diseases due to disturbances of glycogen metabolism such as Lafora di …
Neurological glycogen storage diseases and emerging therapeutics.
Colpaert M, Singh PK, Donohue KJ, Pires NT, Fuller DD, Corti M, Byrne BJ, Sun RC, Vander Kooi CW, Gentry MS. Colpaert M, et al. Neurotherapeutics. 2024 Sep;21(5):e00446. doi: 10.1016/j.neurot.2024.e00446. Epub 2024 Sep 14. Neurotherapeutics. 2024. PMID: 39277505 Free PMC article. Review.
Gene therapy for Lafora disease in the Epm2a(-/-) mouse model.
Zafra-Puerta L, Iglesias-Cabeza N, Burgos DF, Sciaccaluga M, González-Fernández J, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM. Zafra-Puerta L, et al. Mol Ther. 2024 Jul 3;32(7):2130-2149. doi: 10.1016/j.ymthe.2024.05.032. Epub 2024 May 24. Mol Ther. 2024. PMID: 38796707 Free PMC article.
Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. ...Our results represent proof of principle for gene therapy with the coding region of the human EPM2A gene as a treatment for EP …
Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in ad …
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ. Acharya JN, et al. J Clin Neurophysiol. 2023 Feb 1;40(2):100-108. doi: 10.1097/WNP.0000000000000913. Epub 2022 Jun 30. J Clin Neurophysiol. 2023. PMID: 36735458
This article provides an overview of progressive myoclonic epilepsy and focuses on the clinical and neurophysiological findings in the two most commonly recognized forms of progressive myoclonic epilepsy-Unverricht-Lundborg disease (EPM1) …
This article provides an overview of progressive myoclonic epilepsy and focuses on the clinical and neurophysiological …
Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.
Duran J. Duran J. Cells. 2023 Feb 24;12(5):722. doi: 10.3390/cells12050722. Cells. 2023. PMID: 36899857 Free PMC article. Review.
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. ...Importantly, astrocytic Lafora bodies have been shown to contribute to pathology in Lafora disease. These results identify a primary ro …
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. ...Importantly, ast …
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. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. .. …
BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal rec …
The multifaceted roles of the brain glycogen.
Markussen KH, Corti M, Byrne BJ, Vander Kooi CW, Sun RC, Gentry MS. Markussen KH, et al. J Neurochem. 2024 May;168(5):728-743. doi: 10.1111/jnc.15926. Epub 2023 Aug 9. J Neurochem. 2024. PMID: 37554056 Free PMC article. Review.
Perturbed glycogen functions are observed in multiple disorders of the brain, including where it serves as a disease driver in the emerging category of neurological glycogen storage diseases (n-GSDs). n-GSDs include Lafora disease (LD), adult polyglucosan body disea …
Perturbed glycogen functions are observed in multiple disorders of the brain, including where it serves as a disease driver in the emerging …
Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.
d'Orsi G, Di Claudio MT, Liantonio A, Imbrici P, Altomare CD, Palumbo O, Palumbo P, Benvenuto M, Gambacorta N, Lolli G; DEFEAT-LD study group; Carella M. d'Orsi G, et al. Orphanet J Rare Dis. 2025 Aug 21;20(1):447. doi: 10.1186/s13023-025-03976-x. Orphanet J Rare Dis. 2025. PMID: 40841971 Free PMC article.
BACKGROUND: Lafora disease (LD) is an ultra-rare, autosomal recessive neurodegenerative disorder characterized by the accumulation of Lafora bodies in the brain, leading to drug-resistant epilepsy, myoclonus, progressive dementia, and cer …
BACKGROUND: Lafora disease (LD) is an ultra-rare, autosomal recessive neurodegenerative disorder characterized by the accumula …
50 results