Article
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
Journal of neurology - 1 Feb 2014
Haugarvoll Kristoffer, Tzoulis Charalampos, Tran Gia T, Karlsen Bjørn, Engelsen Bernt A, Knappskog Per M, Bindoff Laurence A
Abstract excerpt
Seizures have been reported in two families with myoclonus-dystonia due to epsilon-sarcoglycan (SGCE) mutations. We report a Norwegian family with myoclonus-dystonia and epilepsy associated with a novel SGCE mutation. All six manifesting SGCE mutation carriers had myoclonus, and dystonia was present in two patients. Sequencing of the SGCE gene in the proband identified a novel frameshift c.372delG mutation that...
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