Familial Cortical Myoclonus with a Mutation in NOL3

OBJECTIVE: 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....

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Detalhes bibliográficos
Main 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3431191/
https://ncbi.nlm.nih.gov/pubmed/22926851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23666
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