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Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G variant. Two individuals from successive generations...

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Détails bibliographiques
Publié dans:Case Rep Neurol
Auteurs principaux: Gazulla, José, Izquierdo-Alvarez, Silvia, Ruiz-Fernández, Emilio, Lázaro-Romero, Alba, Berciano, José
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2021
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8255690/
https://ncbi.nlm.nih.gov/pubmed/34248568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000515974
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