PubMed 17395136

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kv1.1

Title: Episodic ataxia type 1: a neuronal potassium channelopathy.

Authors: Sanjeev Rajakulendran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna

Journal, date & volume: , 2007 Apr , 4, 258-66

PubMed link:

Episodic ataxia type 1 is a paroxysmal neurological disorder characterized by short-lived attacks of recurrent midline cerebellar dysfunction and continuous motor activity. Mutations in KCN1A, the gene encoding Kv1.1, a voltage-gated neuronal potassium channel, are associated with the disorder. Although rare, the syndrome highlights the fundamental features of genetic ion-channel diseases and serves as a useful model for understanding more common paroxysmal disorders, such as epilepsy and migraine. This review examines our current understanding of episodic ataxia type 1, focusing on its clinical and genetic features, pathophysiology, and treatment.