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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Bibliografiska uppgifter
I publikationen:Front Neurol
Huvudupphovsmän: Weber, Juliane, Frings, Lars, Rijntjes, Michel, Urbach, Horst, Fischer, Judith, Weiller, Cornelius, Meyer, Philipp T., Klebe, Stephan
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2019
Ämnen:
Neurology
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6334619/
https://ncbi.nlm.nih.gov/pubmed/30687222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.01168
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