Article
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Neurobiology of disease - 1 Sept 2012
Brunetti Orazio, Imbrici Paola, Botti Fabio Massimo, Pettorossi Vito Enrico, D'Adamo Maria Cristina, Valentino Mario, Zammit Christian, Mora Marina, Gibertini Sara, Di Giovanni Giuseppe, Muscat Richard, Pessia Mauro
Abstract excerpt
Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder characterized by myokymia and attacks of ataxic gait often precipitated by stress. Several genetic mutations have been identified in the Shaker-like K(+) channel Kv1.1 (KCNA1) of EA1 individuals, including V408A, which result in remarkable channel dysfunction. By inserting the heterozygous V408A, mutation in one Kv1.1 allele, a mouse...
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