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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Ubiquity Press
2022
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| Materias: | |
| 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 |