title: 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.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Standford, CA 94305, USA.
authors.forename: L A
authors.initials: LA
authors.lastname: Pennacchio
authors.forename: A E
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: N E
authors.initials: NE
authors.lastname: Stone
authors.forename: V L
authors.initials: VL
authors.lastname: Willour
authors.forename: K
authors.initials: K
authors.lastname: Virtaneva
authors.forename: J
authors.initials: J
authors.lastname: Miao
authors.forename: E
authors.initials: E
authors.lastname: D'Amato
authors.forename: L
authors.initials: L
authors.lastname: Ramirez
authors.forename: M
authors.initials: M
authors.lastname: Faham
authors.forename: M
authors.initials: M
authors.lastname: Koskiniemi
authors.forename: J A
authors.initials: JA
authors.lastname: Warrington
authors.forename: R
authors.initials: R
authors.lastname: Norio
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: D R
authors.initials: DR
authors.lastname: Cox
authors.forename: R M
authors.initials: RM
authors.lastname: Myers
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D055313:Cystatin B; D015891:Cystatins / Q000737:chemistry / Q000235:genetics*; D015853:Cysteine Proteinase Inhibitors / Q000737:chemistry / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D005387:Finland; D015870:Gene Expression; D005808:Genes, Recessive; D006801:Humans; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D011995:Recombination, Genetic
chemical_list: C524994:CSTB protein, human; D018388:Codon, Terminator; D015891:Cystatins; D015853:Cysteine Proteinase Inhibitors; D012333:RNA, Messenger; D055313:Cystatin B