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A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy

Detalles Bibliográficos
Autores principales: Penkava, Josef, Ledderose, S., Chahrokh-Zadeh, S., Munzig, A., Eulenburg, zu, Huppert, D., Strupp, M., Becker-Bense, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718184/
https://www.ncbi.nlm.nih.gov/pubmed/32910250
http://dx.doi.org/10.1007/s00415-020-10190-1