Mutations in NHLRC1 cause progressive myoclonus epilepsy
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- 7 September 2003
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 35 (2) , 125-127
- https://doi.org/10.1038/ng1238
Abstract
Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan accumulations. We previously discovered that mutations in EPM2A cause Lafora disease. Here, we identify a second gene associated with this disease, NHLRC1 (also called EPM2B), which encodes malin, a putative E3 ubiquitin ligase with a RING finger domain and six NHL motifs. Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy.Keywords
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