Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder characterized by paroxysmal attacks of ataxia, vertigo, and nausea that usually last hours to days. It is caused by loss-of-function mutations in CACNA1A, the gene encoding the pore-forming α(1) subunit of P/Q-type voltage-g...

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Detalles Bibliográficos
Autores principales: Jaudon, Fanny, Baldassari, Simona, Musante, Ilaria, Thalhammer, Agnes, Zara, Federico, Cingolani, Lorenzo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555146/
https://www.ncbi.nlm.nih.gov/pubmed/32899500
http://dx.doi.org/10.3390/biomedicines8090332

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