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- Title
Familial cortical myoclonus with a mutation in NOL3.
- Authors
Russell, Jonathan F; Steckley, Jamie L; Coppola, Giovanni; Hahn, Angelika F G; Howard, MacKenzie A; Kornberg, Zachary; Huang, Alden; Mirsattari, Seyed M; Merriman, Barry; Klein, Eric; Choi, Murim; Lee, Hsien-Yang; Kirk, Andrew; Nelson-Williams, Carol; Gibson, Gillian; Baraban, Scott C; Lifton, Richard P; Geschwind, Daniel H; Fu, Ying-Hui; Ptáček, Louis J
- Abstract
Myoclonus is characterized by sudden, brief involuntary movements, and its presence is debilitating. We identified a family suffering from adult onset, cortical myoclonus without associated seizures. We performed clinical, electrophysiological, and genetic studies to define this phenotype.
- Publication
Annals of neurology, 2012, Vol 72, Issue 2, p175
- ISSN
1531-8249
- Publication type
Journal Article
- DOI
10.1002/ana.23666