Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association

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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Bibliografische gegevens
Hoofdauteurs: Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, Sanjay M. Sisodiya, Fergus Rugg-Gunn
Formaat: Artikel
Taal:English
Gepubliceerd in: Elsevier 2020-01-01
Reeks:Epilepsy & Behavior Reports
Onderwerpen:
Neuronal ceroid lipofuscinosis
NCL
ANCL
Kufs disease
CLN6
Moyamoya
Online toegang:http://www.sciencedirect.com/science/article/pii/S258998642030037X

Internet

http://www.sciencedirect.com/science/article/pii/S258998642030037X

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