期刊
NEUROTHERAPEUTICS
卷 4, 期 2, 页码 258-266出版社
SPRINGER
DOI: 10.1016/j.nurt.2007.01.010
关键词
episodic ataxia; channelopathies; myokymia; potassium channel
资金
- MRC [G0200373, G0601440, G116/147] Funding Source: UKRI
- Medical Research Council [G116/147, G0601440, G0200373] Funding Source: Medline
Episodic ataxia type I 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 Kv 1. 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.
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