Channelpedia

PubMed 19734086


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1



Title: Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo.

Authors: Susan E Tomlinson, Michael G Hanna, Dimitri M Kullmann, S Veronica Tan, David Burke

Journal, date & volume: Clin Neurophysiol, 2009 Oct , 120, 1768-76

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19734086


Abstract
Clinical neurophysiology has become an invaluable tool in the diagnosis of muscle channelopathies, but the situation is less clear cut with neuronal channelopathies. The genetic episodic ataxias are a group of disorders with heterogeneous phenotype and genotype, but share in common the feature of intermittent cerebellar dysfunction. Episodic ataxia (EA) types 1 and 2 are the most widely recognised of the autosomal dominant episodic ataxias and are caused by dysfunction of neuronal voltage-gated ion channels. There are central and peripheral nervous system manifestations in both conditions, and they are therefore good models of neuronal channelopathies to study neurophysiologically. To date most work has focussed upon characterising the electrophysiological properties of mutant channels in vitro. This review summarises the role of voltage-gated potassium and calcium channels, mutations of which underlie the main types of episodic ataxia types 1 and 2. The clinical, genetic and electrophysiological features of EA1 and EA2 are outlined, and a protocol for the assessment of these patients is proposed.