1. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
- Author
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Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, and Myers RM
- Subjects
- Amino Acid Sequence, Base Sequence, Chromosome Mapping, Codon, Terminator genetics, Cystatin B, Cystatins chemistry, Cysteine Proteinase Inhibitors chemistry, Female, Finland, Gene Expression, Genes, Recessive, Humans, Introns genetics, Linkage Disequilibrium, Male, Molecular Sequence Data, Pedigree, Point Mutation, Polymerase Chain Reaction, RNA, Messenger genetics, RNA, Messenger metabolism, Recombination, Genetic, Chromosomes, Human, Pair 21 genetics, Cystatins genetics, Cysteine Proteinase Inhibitors genetics, Epilepsies, Myoclonic genetics
- Abstract
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two mutations, a 3' splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patients but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.
- Published
- 1996
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