RGD Reference Report - Novel splice site CACNA1A mutation causing episodic ataxia type 2. - Rat Genome Database

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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.
RGD ID: 1358446
Pubmed: PMID:14530926   (View Abstract at PubMed)
DOI: DOI:10.1007/s10048-003-0161-0   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
episodic ataxia type 2  IAGP 1358446 RGD 
episodic ataxia type 2  ISOCACNA1A (Homo sapiens)1358446; 1358446 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cacna1a  (calcium voltage-gated channel subunit alpha1 A)

Genes (Mus musculus)
Cacna1a  (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit)

Genes (Homo sapiens)
CACNA1A  (calcium voltage-gated channel subunit alpha1 A)


Additional Information