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Neurotherapeutics

, Volume 4, Issue 2, pp 258–266 | Cite as

Episodic ataxia type 1: A neuronal potassium channelopathy

  • Sanjeev Rajakulendran
  • Stephanie Schorge
  • Dimitri M. Kullmann
  • Michael G. HannaEmail author
Article
  • 1.1k Downloads

Summary

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.

Key Words

Episodic ataxia channelopathies myokymia potassium channel 

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Copyright information

© Springer New York 2007

Authors and Affiliations

  • Sanjeev Rajakulendran
    • 1
  • Stephanie Schorge
    • 1
  • Dimitri M. Kullmann
    • 2
  • Michael G. Hanna
    • 1
    Email author
  1. 1.Centre for Neuromuscular Disease, Department of Molecular Neuroscience, Institute of NeurologyUniversity College LondonLondonUK
  2. 2.Department of Clinical and Experimental Epilepsy, Institute of NeurologyUniversity College LondonLondonUK

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