Channelpedia

PubMed 17575281


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1 , Kv1.1



Title: Primary episodic ataxias: diagnosis, pathogenesis and treatment.

Authors: J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh,

Journal, date & volume: Brain, 2007 Oct , 130, 2484-93

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17575281


Abstract
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and treatment of episodic ataxia syndromes. We focus on unresolved issues including phenotypic and genetic heterogeneity, lessons from animal models and technological advancement, rationale and feasibility of various treatment strategies, and shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal conditions such as epilepsy and migraine.