@article{99ee3ae4ec8d42c0a60ca50e539b6f3b,
title = "Mutations in NHLRC1 cause progressive myoclonus epilepsy",
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.",
author = "Chan, {Elayne M.} and Young, {Edwin J.} and Leonarda Ianzano and Iulia Munteanu and Xiaochu Zhao and Christopoulos, {Constantine C.} and Giuliano Avanzini and Maurizio Elia and Ackerley, {Cameron A.} and Jovic, {Nebojsa J.} and Saeed Bohlega and Eva Andermann and Rouleau, {Guy A.} and Delgado-Escueta, {Antonio V.} and Minassian, {Berge A.} and Scherer, {Stephen W.}",
note = "Funding Information: We thank members of The Centre for Applied Genomics (http://tcag.bioinfo.sickkids.on.ca/) for assistance, notably A. Paterson and D. Bulman; the families with Lafora disease for support; and L. Palm, A. Prasad, D. Buckley, T. Minett, W. Bara-Jimenez, L. Jardim and J.M. Saraiva, who contributed single cases. This work was funded by the Canadian Institutes of Health Research, the Canadian Genetic Diseases Network, Genome Canada and the Hospital for Sick Children Foundation. L.I. is supported by the Comitato Telethon Fondazione Onlus. S.W.S. is an Investigator of CIHR and International Scholar of the Howard Hughes Medical Institute.",
year = "2003",
month = oct,
day = "1",
doi = "10.1038/ng1238",
language = "English (US)",
volume = "35",
pages = "125--127",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "2",
}