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Two mutations, a 3\u2032 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.<\/jats:p>","DOI":"10.1126\/science.271.5256.1731","type":"journal-article","created":{"date-parts":[[2006,10,27]],"date-time":"2006-10-27T18:30:41Z","timestamp":1161973841000},"page":"1731-1734","source":"Crossref","is-referenced-by-count":427,"title":["Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)"],"prefix":"10.1126","volume":"271","author":[{"given":"Len A.","family":"Pennacchio","sequence":"first","affiliation":[{"name":"L. A. 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