H01994 | |
H number | H01994 |
Name | Lafora disease |
Description | Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy. LD is characterised by epilepsy, myoclonus, progressive neurological deterioration, and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). Mutations in two genes, EPM2A and NHLRC1, have been shown to cause this disease. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. |
Category | Nervous system disease |
Network | - |
Gene | EPM2A [HSA:7957] [KO:K14165] NHLRC1 [HSA:378884] [KO:K10602] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8A61.41 ICD-10: G40.3 MeSH: D020192 OMIM: 254780 |
Reference | PMID:19267391 AUTHORS Singh S, Ganesh S TITLE Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. JOURNAL Hum Mutat 30:715-23 (2009) DOI:10.1002/humu.20954 PMID:16950819 AUTHORS Singh S, Sethi I, Francheschetti S, Riggio C, Avanzini G, Yamakawa K, Delgado-Escueta AV, Ganesh S TITLE Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. JOURNAL J Med Genet 43:e48 (2006) DOI:10.1136/jmg.2005.039479 PMID:11175283 AUTHORS Gomez-Garre P, Sanz Y, Rodriguez De Cordoba SR, Serratosa JM TITLE Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. JOURNAL Eur J Hum Genet 8:946-54 (2000) DOI:10.1038/sj.ejhg.5200571 PMID:16311711 AUTHORS Ganesh S, Puri R, Singh S, Mittal S, Dubey D TITLE Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. JOURNAL J Hum Genet 51:1-8 (2006) DOI:10.1007/s10038-005-0321-1 |