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...

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Detalles Bibliográficos
Autores principales: Talbot, Jamie, Singh, Priyanka, Puvirajasinghe, Clinda, Sisodiya, Sanjay M., Rugg-Gunn, Fergus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
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

Internet

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

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