Article
Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
Epilepsia - 1 Sept 2004
de Haan Gerrit-Jan, Halley Dicky J J, Doelman Jan C, Geesink Huibert H, Augustijn Paul B, Jager-Jongkind Anke D, Majoie Marianne, Bader Adri J, Leliefeld-Ten Doeschate Lian A W M, Deelen Wout H, Bertram Ed, Lehesjoki Anna E, Lindhout Dick
Abstract excerpt
PURPOSE: Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy. METHODS: Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus. RESULTS: Seven of the 21 evaluated cases carried mutations in...
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