Progressive myoclonus epilepsy associated with SACS gene mutations.
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ABSTRACT:
SUBMITTER: Nascimento FA
PROVIDER: S-EPMC4936476 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
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Progressive myoclonus epilepsy associated with SACS gene mutations.
Nascimento Fábio A FA Canafoglia Laura L Aljaafari Danah D Muona Mikko M Lehesjoki Anna-Elina AE Berkovic Samuel F SF Franceschetti Silvana S Andrade Danielle M DM
Neurology. Genetics 20160623 4
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 ...[more]
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