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Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen gene...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528204/ https://www.ncbi.nlm.nih.gov/pubmed/33024953 http://dx.doi.org/10.1016/j.ebr.2020.100389 |