Article
Severe familial paroxysmal exercise-induced dyskinesia.
Journal of neurology - 1 Oct 2014
Tacik Pawel, Loens Sebastian, Schrader Christoph, Gayde-Stephan Sabine, Biskup Saskia, Dressler Dirk
Abstract excerpt
Familial paroxysmal exercise-induced dyskinesia (PED) is a rare movement disorder that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner. Clinical, laboratory, and genetic studies were performed in three family members. The proband's symptoms were recorded in a private video. He was placed on clonazepam. The 42-year-old proband...
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