Referenced in: none

Automatically associated channels: Cav2.1

Title: Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

Authors: A M J M van den Maagdenberg, E E Kors, E R Brunt, W van Paesschen, J Pascual, D Ravine, S Keeling, K R J Vanmolkot, F L M G Vermeulen, G M Terwindt, J Haan, R R Frants, M D Ferrari

Journal, date & volume: J. Neurol., 2002 Nov , 249, 1515-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12420090

Abstract
We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading frame and result in a premature stop of the CACNA1A protein, were identified in exons 14, 16 and 26. In the remaining family, a novel missense mutation (H253Y) was found. Of the twenty two EA-2 mutations identified thus far, including those of the present study, seventeen are truncating mutations and five are missense mutations, all resulting in an EA-2 clinical phenotype.