title: Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
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.
authors.affiliation: MGC-Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: A M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
authors.forename: E E
authors.initials: EE
authors.lastname: Kors
authors.forename: E R
authors.initials: ER
authors.lastname: Brunt
authors.forename: W
authors.initials: W
authors.lastname: van Paesschen
authors.forename: J
authors.initials: J
authors.lastname: Pascual
authors.forename: D
authors.initials: D
authors.lastname: Ravine
authors.forename: S
authors.initials: S
authors.lastname: Keeling
authors.forename: K R J
authors.initials: KR
authors.lastname: Vanmolkot
authors.forename: F L M G
authors.initials: FL
authors.lastname: Vermeulen
authors.forename: G M
authors.initials: GM
authors.lastname: Terwindt
authors.forename: J
authors.initials: J
authors.lastname: Haan
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: M D
authors.initials: MD
authors.lastname: Ferrari
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D015220:Calcium Channels / Q000172:deficiency* / Q000235:genetics*; D020865:Calcium Channels, P-Type / Q000172:deficiency* / Q000235:genetics*; D002531:Cerebellum / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; D020865:Calcium Channels, P-Type; D006639:Histidine; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type