title: Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?
abstract: Lafora progressive myoclonus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early adolescence. LD is characterized by recurrent epileptic seizures and progressive decline in intellectual function. LD can be caused by defects in any of the two known genes and the clinical features of these two genetic groups are almost identical. The past one decade has witnessed considerable success in identifying the LD genes, their mutations, the cellular functions of gene products and on molecular basis of LD. Here, we briefly review the current literature on the phenotype variations, on possible presence of genetic modifiers, and candidate modifiers as targets for therapeutic interventions in LD.
authors.affiliation: Department of Human Biology, International Medical University, No. 126 Jalan Jalil Perkasa 19, Bukit Jalil, Kuala Lumpur, Malaysia. shweta_singh@imu.edu.my
authors.forename: Shweta
authors.initials: S
authors.lastname: Singh
authors.forename: Subramaniam
authors.initials: S
authors.lastname: Ganesh
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D006801:Humans; D020192:Lafora Disease / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation; D010641:Phenotype; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics* / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human