Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel

The <i>KCNA1</i> gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in <i>KCNA1</i> have been classically associated with episodic ataxia type 1 (EA1)...

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Bibliographic Details
Main Authors: Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Biomedicines
Subjects:
<i>KCNA1</i>
myokymia
neuromyotonia
muscle hypertrophy
ataxia
creatine kinase
Online Access:https://www.mdpi.com/2227-9059/9/1/75

Internet

https://www.mdpi.com/2227-9059/9/1/75

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