Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
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 foun...
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Published in | Science (American Association for the Advancement of Science) Vol. 271; no. 5256; pp. 1731 - 1734 |
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Main Authors | , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Washington, DC
American Society for the Advancement of Science
22.03.1996
American Association for the Advancement of Science The American Association for the Advancement of Science |
Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
ISSN: | 0036-8075 1095-9203 |
DOI: | 10.1126/science.271.5256.1731 |