TY - JOUR
T1 - Episodic ataxia type 2 - Three novel truncating mutations and one novel missense mutation in the CACNA1A gene
AU - Van Den Maagdenberg, A.M.J.M.
AU - Kors, E.E.
AU - Brunt, E.R.
AU - Van Paesschen, W.
AU - Pascual, J.
AU - Ravine, David
AU - Keeling, S.
AU - Vanmolkot, K.R.J.
AU - Vermeulen, F.L.M.G.
AU - Terwindt, G.M.
AU - Haan, J.
AU - Frants, R.R.
AU - Ferrari, M.D.
PY - 2002
Y1 - 2002
N2 - We analysed the CACNA1A gene, located on chromosome 19p 13, 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.
AB - We analysed the CACNA1A gene, located on chromosome 19p 13, 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.
U2 - 10.1007/s00415-002-0860-8
DO - 10.1007/s00415-002-0860-8
M3 - Article
SN - 0340-5354
VL - 249
SP - 1515
EP - 1519
JO - Journal of Neurology
JF - Journal of Neurology
ER -