PROGRESSIVE MYOCLONUS EPILEPSY ASSOCIATED WITH SACS GENE MUTATIONS
AuthorNascimento, FA; Canafoglia, L; Aljaafari, D; Muona, M; Lehesjoki, A-E; Berkovic, SF; Franceschetti, S; Andrade, DM
Source TitleNeurology Genetics
PublisherLIPPINCOTT WILLIAMS & WILKINS
University of Melbourne Author/sBerkovic, Samuel
AffiliationMedicine (Austin & Northern Health)
Document TypeJournal Article
CitationsNascimento, F. A., Canafoglia, L., Aljaafari, D., Muona, M., Lehesjoki, A. -E., Berkovic, S. F., Franceschetti, S. & Andrade, D. M. (2016). PROGRESSIVE MYOCLONUS EPILEPSY ASSOCIATED WITH SACS GENE MUTATIONS. NEUROLOGY-GENETICS, 2 (4), https://doi.org/10.1212/NXG.0000000000000083.
Access StatusOpen Access
Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients bearing SACS gene mutations.(2) We detail the PME clinical features associated with SACS mutations and suggest the inclusion of the SACS gene in diagnostic screening of PMEs.
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