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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發表在:Front Physiol
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2015
主題:
Physiology
在線閱讀: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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