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

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 we...

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Bibliographic Details
Main Authors: Maria Cristina D'Adamo, Constanze eGallenmueller, Ilenio eServettini, Elisabeth eHartl, Stephen eTucker, Larissa eArning, Saskia eBiskup, Alessandro eGrottesi, Luca eGuglielmi, Paola eImbrici, Pia eBernasconi, Giuseppe eDi Giovanni, Fabio eFranciolini, Luigi eCatacuzzeno, Mauro ePessia, Thomas eKlopstock
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-01-01
Series:Frontiers in Physiology
Subjects:
Kv1.1 Potassium Channel
Sleep
hyperthermia
Migraine
channelopathy
Kcna1
Online Access:http://journal.frontiersin.org/Journal/10.3389/fphys.2014.00525/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fphys.2014.00525/full

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