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Cognitive deficits in episodic ataxia type 2 mouse models

Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder characterized by motor incoordination, paroxysmal dystonia, vertigo, nystagmus and more recently cognitive deficits. To date over 100 mutations in the CACNA1A gene have been identified in EA2 patients leading to a loss of P/Q-type ch...

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Detalles Bibliográficos
Autores principales: Bohne, Pauline, Mourabit, Damian Boden-El, Josten, Mareike, Mark, Melanie D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8444449/
https://www.ncbi.nlm.nih.gov/pubmed/34077522
http://dx.doi.org/10.1093/hmg/ddab149