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Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Episodic ataxia type 1 (EA1) is an autosomal dominant K(+) channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia. Episodes can be triggered by emotional or physical stress, startle response, sudden postural change or fever. Here w...

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Detalles Bibliográficos
Autores principales:	D'Adamo, Maria C., Gallenmüller, Constanze, Servettini, Ilenio, Hartl, Elisabeth, Tucker, Stephen J., Arning, Larissa, Biskup, Saskia, Grottesi, Alessandro, Guglielmi, Luca, Imbrici, Paola, Bernasconi, Pia, Di Giovanni, Giuseppe, Franciolini, Fabio, Catacuzzeno, Luigi, Pessia, Mauro, Klopstock, Thomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2015
Materias:	Physiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295438/ https://www.ncbi.nlm.nih.gov/pubmed/25642194 http://dx.doi.org/10.3389/fphys.2014.00525

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