Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia

Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with a combined motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited dystonic disorders and is caused by mutations in the ε-sarcoglycan (SGCE) gene. Work to date suggests that dystonia is cau...

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Detalles Bibliográficos
Autores principales: Sperandeo, Alessandra, Tamburini, Claudia, Noakes, Zoe, de la Fuente, Daniel Cabezas, Keefe, Francesca, Petter, Olena, Plumbly, William, Clifton, Nicholas E, Li, Meng, Peall, Kathryn J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115238/
https://www.ncbi.nlm.nih.gov/pubmed/36204995
http://dx.doi.org/10.1093/brain/awac365

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115238/
https://www.ncbi.nlm.nih.gov/pubmed/36204995
http://dx.doi.org/10.1093/brain/awac365

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