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Your search keyword '"Cystatin B"' showing total 2 results
Start Over Descriptor "Cystatin B" Language dutch; flemish
2 results on '"Cystatin B"'

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

Author

G J, de Haan, D J J, Halley, W H, Deelen, and D, Lindhout

Subjects
Secondary Prevention, Humans, Point Mutation, Cystatin B, Cysteine Proteinase Inhibitors, Myoclonic Epilepsies, Progressive, Prognosis, Cystatins
Abstract

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.

Published
2002

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

Author

de Haan GJ, Halley DJ, Deelen WH, and Lindhout D

Subjects
Cystatin B, Humans, Myoclonic Epilepsies, Progressive diagnosis, Myoclonic Epilepsies, Progressive therapy, Point Mutation, Prognosis, Secondary Prevention, Cystatins genetics, Cysteine Proteinase Inhibitors genetics, Myoclonic Epilepsies, Progressive genetics
Abstract

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.

Published
2002

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