A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the vo...

Descripción completa

Detalles Bibliográficos
Autores principales: Hasan, Sonia, Bove, Cecilia, Silvestri, Gabriella, Mantuano, Elide, Modoni, Anna, Veneziano, Liana, Macchioni, Lara, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D’Adamo, Maria Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496848/
https://www.ncbi.nlm.nih.gov/pubmed/28676720
http://dx.doi.org/10.1038/s41598-017-03041-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496848/
https://www.ncbi.nlm.nih.gov/pubmed/28676720
http://dx.doi.org/10.1038/s41598-017-03041-z

Ejemplares similares