Referenced in: none

Automatically associated channels: Cav2.1

Title: Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Authors: M A Kaunisto, H Harno, M Kallela, H Somer, R Sallinen, E Hämäläinen, P J Miettinen, J Vesa, A Orpana, A Palotie, M Färkkilä, M Wessman

Journal, date & volume: Neurogenetics, 2004 Feb , 5, 69-73

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/14530926

Abstract
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-type calcium channel Ca(v)2.1 subunit gene, CACNA1A, located on chromosome 19p13.2. We analyzed a family with 13 affected individuals for linkage to this locus and reached a two-point maximum LOD score of 4.48. A novel CACNA1A mutation, IVS36-2A>G, at the 3' acceptor splice site of intron 36 was identified by sequencing. It is the first described CACNA1A acceptor splice site mutation and the most C-terminal EA-2-causing mutation reported to date.