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. 2003 Oct;35(2):125-7.
doi: 10.1038/ng1238. Epub 2003 Sep 7.

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M Chan  1 , Edwin J Young, Leonarda Ianzano, Iulia Munteanu, Xiaochu Zhao, Constantine C Christopoulos, Giuliano Avanzini, Maurizio Elia, Cameron A Ackerley, Nebojsa J Jovic, Saeed Bohlega, Eva Andermann, Guy A Rouleau, Antonio V Delgado-Escueta, Berge A Minassian, Stephen W Scherer
Affiliations

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M Chan et al. Nat Genet. 2003 Oct.

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.

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