[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 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.
de Haan
G J
GJ
Stichting Epilepsie Intellingen Nederland, Postbus 21, 2100 AA Heemstede. gjdhaan@sein.nl
Halley
D J J
DJ
Deelen
W H
WH
Lindhout
D
D
D055313:Cystatin B; D015891:Cystatins / Q000235:genetics*; D015853:Cysteine Proteinase Inhibitors / Q000235:genetics*; D006801:Humans; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D017354:Point Mutation; D011379:Prognosis; D055502:Secondary Prevention
C524994:CSTB protein, human; D015891:Cystatins; D015853:Cysteine Proteinase Inhibitors; D055313:Cystatin B