Van gen naar ziekte; progressieve myoclonusepilepsie van Unverricht-Lundborg en mutaties in het cystatine-B-gen

G. J. De Haan; D. J.J. Halley; W. H. Deelen; D. Lindhout

Van gen naar ziekte; progressieve myoclonusepilepsie van Unverricht-Lundborg en mutaties in het cystatine-B-gen

Translated title of the contribution: From gene to disease; progressive myoclonus epilepsy of the Unverricht-Lundborg type and mutations in the cystatin B gene

G. J. De Haan^*
, D. J.J. Halley
, W. H. Deelen
, D. Lindhout

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Translated title of the contribution	From gene to disease; progressive myoclonus epilepsy of the Unverricht-Lundborg type and mutations in the cystatin B gene
Original language	Dutch
Pages (from-to)	846-848
Number of pages	3
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	146
Issue number	18
Publication status	Published - 4 May 2002
Externally published	Yes

Cite this

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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.",

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AU - Halley, D. J.J.

AU - Deelen, W. H.

AU - Lindhout, D.

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N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0037018688

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IS - 18

ER -

Van gen naar ziekte; progressieve myoclonusepilepsie van Unverricht-Lundborg en mutaties in het cystatine-B-gen

Abstract

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