Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
Science
; 271(5256): 1731-4, 1996 Mar 22.
Article
em En
| MEDLINE
| ID: mdl-8596935
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 21
/
Cistatinas
/
Inibidores de Cisteína Proteinase
/
Epilepsias Mioclônicas
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Science
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Estados Unidos