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

200 Citations (Scopus)

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

Fingerprint

Lafora Disease
Progressive Myoclonic Epilepsy
Endoplasmic Reticulum
RING Finger Domains
Mutation
Ubiquitin-Protein Ligases
Epilepsy
Genes
polyglucosan

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Chan, E. M., Young, E. J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C. C., ... Scherer, S. W. (2003). Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature Genetics, 35(2), 125-127. https://doi.org/10.1038/ng1238

Mutations in NHLRC1 cause progressive myoclonus epilepsy. / Chan, Elayne M.; Young, Edwin J.; Ianzano, Leonarda; Munteanu, Iulia; Zhao, Xiaochu; Christopoulos, Constantine C.; Avanzini, Giuliano; Elia, Maurizio; Ackerley, Cameron A.; Jovic, Nebojsa J.; Bohlega, Saeed; Andermann, Eva; Rouleau, Guy A.; Delgado-Escueta, Antonio V.; Minassian, Berge A.; Scherer, Stephen W.

In: Nature Genetics, Vol. 35, No. 2, 01.10.2003, p. 125-127.

Research output: Contribution to journalArticle

Chan, EM, Young, EJ, Ianzano, L, Munteanu, I, Zhao, X, Christopoulos, CC, Avanzini, G, Elia, M, Ackerley, CA, Jovic, NJ, Bohlega, S, Andermann, E, Rouleau, GA, Delgado-Escueta, AV, Minassian, BA & Scherer, SW 2003, 'Mutations in NHLRC1 cause progressive myoclonus epilepsy', Nature Genetics, vol. 35, no. 2, pp. 125-127. https://doi.org/10.1038/ng1238
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature Genetics. 2003 Oct 1;35(2):125-127. https://doi.org/10.1038/ng1238
Chan, Elayne M. ; Young, Edwin J. ; Ianzano, Leonarda ; Munteanu, Iulia ; Zhao, Xiaochu ; Christopoulos, Constantine C. ; Avanzini, Giuliano ; Elia, Maurizio ; Ackerley, Cameron A. ; Jovic, Nebojsa J. ; Bohlega, Saeed ; Andermann, Eva ; Rouleau, Guy A. ; Delgado-Escueta, Antonio V. ; Minassian, Berge A. ; Scherer, Stephen W. / Mutations in NHLRC1 cause progressive myoclonus epilepsy. In: Nature Genetics. 2003 ; Vol. 35, No. 2. pp. 125-127.
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