title: Progressive myoclonus epilepsy associated with SACS gene mutations.
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.
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Fábio A
authors.initials: FA
authors.lastname: Nascimento
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Laura
authors.initials: L
authors.lastname: Canafoglia
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Danah
authors.initials: D
authors.lastname: Aljaafari
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Mikko
authors.initials: M
authors.lastname: Muona
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Anna-Elina
authors.initials: AE
authors.lastname: Lehesjoki
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Silvana
authors.initials: S
authors.lastname: Franceschetti
authors.affiliation: Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Andrade