NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

BACKGROUND: Variants of the NUS1 gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation. CASE REPORT: We report a case of myoclonus epilepsy, mild cerebella...

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Detalles Bibliográficos
Autores principales: Riboldi, Giulietta M., Monfrini, Edoardo, Stahl, Christine, Frucht, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205445/
https://www.ncbi.nlm.nih.gov/pubmed/35949226
http://dx.doi.org/10.5334/tohm.696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205445/
https://www.ncbi.nlm.nih.gov/pubmed/35949226
http://dx.doi.org/10.5334/tohm.696

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