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

Research output: Contribution to journalArticle

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
Pages (from-to)125-127
Number of pages3
JournalNature Genetics
Volume35
Issue number2
DOIs
Publication statusPublished - Oct 1 2003

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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