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01-02-2004 | Short Communication

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

Published in: Neurogenetics | Issue 1/2004

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_v2.1 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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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
Publication date: 01-02-2004
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2004
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-003-0161-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Novel splice site CACNA1A mutation causing episodic ataxia type 2

Abstract.

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract.

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