Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neurotherapeutics. 2007 Apr;4(2):258-66.

Episodic ataxia type 1: a neuronal potassium channelopathy.

Author information

  • 1Department of Molecular Neuroscience, Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, United Kingdom.

Abstract

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.

PMID:
17395136
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Write to the Help Desk