Referenced in: none

Automatically associated channels: Cav2.1

Title: Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

Authors: P Imbrici, L H Eunson, T D Graves, K P Bhatia, N H Wadia, D M Kullmann, M G Hanna

Journal, date & volume: Neurology, 2005 Sep 27 , 65, 944-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16186543

Abstract
Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.