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Xu, C. Lafora Progressive Myoclonus Epilepsy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4434 (accessed on 29 September 2026).
Xu C. Lafora Progressive Myoclonus Epilepsy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4434. Accessed September 29, 2026.
Xu, Camila. "Lafora Progressive Myoclonus Epilepsy" Encyclopedia, https://encyclopedia.pub/entry/4434 (accessed September 29, 2026).
Xu, C. (2020, December 23). Lafora Progressive Myoclonus Epilepsy. In Encyclopedia. https://encyclopedia.pub/entry/4434
Xu, Camila. "Lafora Progressive Myoclonus Epilepsy." Encyclopedia. Web. 23 December, 2020.
Lafora Progressive Myoclonus Epilepsy
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy

Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.

genetic conditions

References

  1. Andrade DM, Turnbull J, Minassian BA. Lafora disease, seizures and sugars.Acta Myol. 2007 Jul;26(1):83-6. Review.
  2. Delgado-Escueta AV. Advances in lafora progressive myoclonus epilepsy. CurrNeurol Neurosci Rep. 2007 Sep;7(5):428-33. Review.
  3. Ganesh S, Puri R, Singh S, Mittal S, Dubey D. Recent advances in the molecularbasis of Lafora's progressive myoclonus epilepsy. J Hum Genet. 2006;51(1):1-8.doi: 10.1007/s10038-005-0321-1.
  4. Girard JM, Turnbull J, Ramachandran N, Minassian BA. Progressive myoclonusepilepsy. Handb Clin Neurol. 2013;113:1731-6. doi:10.1016/B978-0-444-59565-2.00043-5. Review.
  5. Jansen AC, Andermann E. Progressive Myoclonus Epilepsy, Lafora Type. 2007 Dec 28 [updated 2019 Feb 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1389/
  6. Kälviäinen R. Progressive Myoclonus Epilepsies. Semin Neurol. 2015Jun;35(3):293-9. doi: 10.1055/s-0035-1552620.
  7. Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA,Quinn NP, Franceschetti S, Zara F, Minassian BA. Genetic diagnosis in Laforadisease: genotype-phenotype correlations and diagnostic pitfalls. Neurology. 2007Mar 27;68(13):996-1001. Erratum in: Neurology. 2007 Jun 12;68(24):2153. Quinn, NP[added].
  8. Singh S, Ganesh S. Lafora progressive myoclonus epilepsy: a meta-analysis ofreported mutations in the first decade following the discovery of the EPM2A andNHLRC1 genes. Hum Mutat. 2009 May;30(5):715-23. doi: 10.1002/humu.20954. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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