Article
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
International journal of molecular sciences - 22 Apr 2020
D'Adamo Maria Cristina, Liantonio Antonella, Rolland Jean-Francois, Pessia Mauro, Imbrici Paola
Abstract excerpt
Kv1.1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the central and peripheral nervous systems. KCNA1 is the only gene that has been associated with episodic ataxia type 1 (EA1), an autosomal dominant disorder characterized by ataxia and myokymia and for which different and variable phenotypes have now been reported. The iterative...
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