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.
CITATION STYLE
Van den Maagdenberg, A. M. J. M., Kors, E. E., Brunt, E. R., Van Paesschen, W., Pascual, J., Ravine, D., … Ferrari, M. D. (2002). Episodic ataxia type 2: Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. Journal of Neurology, 249(11), 1515–1519. https://doi.org/10.1007/s00415-002-0860-8
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