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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Publicat a:Front Physiol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2015
Matèries:
Physiology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4295438/
https://ncbi.nlm.nih.gov/pubmed/25642194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2014.00525
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