Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21 / genetics*
  • Codon, Terminator / genetics
  • Cystatin B
  • Cystatins / chemistry
  • Cystatins / genetics*
  • Cysteine Proteinase Inhibitors / chemistry
  • Cysteine Proteinase Inhibitors / genetics*
  • Epilepsies, Myoclonic / genetics*
  • 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


  • CSTB protein, human
  • Codon, Terminator
  • Cystatins
  • Cysteine Proteinase Inhibitors
  • RNA, Messenger
  • Cystatin B

Associated data

  • GENBANK/L03558
  • GENBANK/U46692