Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the VPS13A gene with an autosomal recessive transmission. We report a consanguineous Turkish family with a different...

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Detalles Bibliográficos
Autores principales: Weber, Juliane, Frings, Lars, Rijntjes, Michel, Urbach, Horst, Fischer, Judith, Weiller, Cornelius, Meyer, Philipp T., Klebe, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334619/
https://www.ncbi.nlm.nih.gov/pubmed/30687222
http://dx.doi.org/10.3389/fneur.2018.01168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334619/
https://www.ncbi.nlm.nih.gov/pubmed/30687222
http://dx.doi.org/10.3389/fneur.2018.01168

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