Article
FOunder effect in patients with Unverricht-Lundborg disease on reunion island.
Epilepsia - 1 Oct 2003
Moulard Bruno, Darcel Françoise, Mignard Didier, Jeanpierre Marc, Genton Pierre, Cartault François, Yaouanq Jacqueline, Roubertie Agathe, Biraben Arnaud, Buresi Catherine, Malafosse Alain
Abstract excerpt
PURPOSE: Unverricht-Lundborg disease (ULD) is the most frequent form of progressive myoclonus epilepsy. ULD is caused mostly by a homozygous expansion of a dodecamer repeat in the cystatin B gene (CSTB) promoter. We present here a clinical and molecular study of 14 ULD patients originating from Reunion Island, a French island in the Indian Ocean. METHODS: These ULD patients were clinically evaluated, and the...
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