From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene

Progressive myoclonus epilepsy type 1 of Unverricht-Lundborg (EPM1) is a rare disorder, associated with mutations in the cystatin B (CSTB) gene. The most prevalent molecular abnormality is an expansion of a dodecamer repeat in the promoter region of the CSTB gene, but point mutations in the CSTB gen...

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Bibliographic Details
Published inNederlands tijdschrift voor geneeskunde Vol. 146; no. 18; p. 846
Main Authors de Haan, G J, Halley, D J J, Deelen, W H, Lindhout, D
Format Journal Article
LanguageDutch
Published Netherlands 04.05.2002
Subjects
Cystatin B
Cystatins - genetics
Cysteine Proteinase Inhibitors - genetics
Humans
Myoclonic Epilepsies, Progressive - diagnosis
Myoclonic Epilepsies, Progressive - genetics
Myoclonic Epilepsies, Progressive - therapy
Point Mutation
Prognosis
Secondary Prevention
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Summary:Progressive myoclonus epilepsy type 1 of Unverricht-Lundborg (EPM1) is a rare disorder, associated with mutations in the cystatin B (CSTB) gene. The most prevalent molecular abnormality is an expansion of a dodecamer repeat in the promoter region of the CSTB gene, but point mutations in the CSTB gene have also been found. DNA examination may be useful in discriminating EPM1 from juvenile myoclonic epilepsy, and from other types of progressive myoclonus epilepsy. An early diagnosis is important to optimise treatment and to provide an adequate prognosis and prediction of recurrence.
ISSN:0028-2162