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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gazulla, José, Izquierdo-Alvarez, Silvia, Ruiz-Fernández, Emilio, Lázaro-Romero, Alba, Berciano, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Case Series - General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255690/
https://www.ncbi.nlm.nih.gov/pubmed/34248568
http://dx.doi.org/10.1159/000515974

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255690/
https://www.ncbi.nlm.nih.gov/pubmed/34248568
http://dx.doi.org/10.1159/000515974

Ejemplares similares