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Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Authors: Kaunisto, MA  Harno, H  Kallela, M  Somer, H  Sallinen, R  Hamalainen, E  Miettinen, PJ  Vesa, J  Orpana, A  Palotie, A  Farkkila, M  Wessman, M 
Citation: Kaunisto MA, etal., Neurogenetics 2004 Feb;5(1):69-73. Epub 2003 Oct 7.
Pubmed: (View Article at PubMed) PMID:14530926
DOI: Full-text: DOI:10.1007/s10048-003-0161-0

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.


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RGD Object Information
RGD ID: 1358446
Created: 2005-06-12
Species: All species
Last Modified: 2005-06-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.