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    PROGRESSIVE MYOCLONUS EPILEPSY ASSOCIATED WITH SACS GENE MUTATIONS

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    Author
    Nascimento, FA; Canafoglia, L; Aljaafari, D; Muona, M; Lehesjoki, A-E; Berkovic, SF; Franceschetti, S; Andrade, DM
    Date
    2016-08-01
    Source Title
    Neurology Genetics
    Publisher
    LIPPINCOTT WILLIAMS & WILKINS
    University of Melbourne Author/s
    Berkovic, Samuel
    Affiliation
    Medicine and Radiology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Nascimento, 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 Status
    Open Access
    URI
    http://hdl.handle.net/11343/259510
    DOI
    10.1212/NXG.0000000000000083
    Abstract
    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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