Publications by authors named "Marianne Majoie"
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.