New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy characterized by paroxysmal cerebellar ataxia. Previous studies suggest that most EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrant splicing.
Eunson
Louise H
LH
Department of Molecular Neurosciences, Institute of Neurology, University College London, London, UK.
Graves
Tracey D
TD
Hanna
Michael G
MG
D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics; D012313:RNA / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D006113:United Kingdom; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D005819:Genetic Markers; D021122:Protein Subunits; D012313:RNA; D022821:RNA Splice Sites; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type