Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, 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

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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.

Original languageEnglish (US)
Pages (from-to)125-127
Number of pages3
JournalNature genetics
Volume35
Issue number2
DOIs
StatePublished - Oct 1 2003

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ASJC Scopus subject areas

  • Genetics

Cite this

Chan, E. M., Young, E. J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C. C., Avanzini, G., Elia, M., Ackerley, C. A., Jovic, N. J., Bohlega, S., Andermann, E., Rouleau, G. A., Delgado-Escueta, A. V., Minassian, B. A., & Scherer, S. W. (2003). Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature genetics, 35(2), 125-127. https://doi.org/10.1038/ng1238