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...

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Bibliografische gegevens
Gepubliceerd in:Sci Rep
Hoofdauteurs: Hasan, Sonia, Bove, Cecilia, Silvestri, Gabriella, Mantuano, Elide, Modoni, Anna, Veneziano, Liana, Macchioni, Lara, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D’Adamo, Maria Cristina
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2017
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5496848/
https://ncbi.nlm.nih.gov/pubmed/28676720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-03041-z
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