Journal
NEUROGENETICS
Volume 5, Issue 1, Pages 69-73Publisher
SPRINGER
DOI: 10.1007/s10048-003-0161-0
Keywords
voltage-dependent calcium channel; P/Q type; alpha 1A subunit; ataxia; DNA sequence analysis; RNA splice sites; chromosome 19
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Funding
- NINDS NIH HHS [R01 NS37675-02] Funding Source: Medline
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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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