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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
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.
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Citations
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Metadata
- Authors
- Pennacchio, L. A., Lehesjoki, A.-E., Stone, N. E., Willour, V. L., Virtaneva, K., Miao, J., D'Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., Warrington, J. A., Norio, R., de la Chapelle, A., Cox, D. R., & Myers, R. M.
- Venue
- Science
- Published
- 1996-03-22
- Volume
- 271
- Issue
- 5256
- Pages
- 1731-1734
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2021722828
- Cited by
- 541
- References
- 0
- FWCI
- 34.85
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1). https://app.cochat.ai/papers/10.1126/science.271.5256.1731
- The paper
- Pennacchio, L. A., Lehesjoki, A.-E., Stone, N. E., Willour, V. L., Virtaneva, K., Miao, J., D'Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., Warrington, J. A., Norio, R., de la Chapelle, A., Cox, D. R., & Myers, R. M. (1996). Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1). Science. https://doi.org/10.1126/science.271.5256.1731
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
