Article
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
Brain : a journal of neurology - 1 Mar 2005
Berkovic Samuel F, Mazarib Aziz, Walid Simri, Neufeld Miriam Y, Manelis Judith, Nevo Yoram, Korczyn Amos D, Yin Jinggang, Xiong Lan, Pandolfo Massimo, Mulley John C, Wallace Robyn H
Abstract excerpt
Progressive myoclonus epilepsy (PME) has a number of causes, of which Unverricht-Lundborg disease (ULD) is the most common. ULD has previously been mapped to a locus on chromosome 21 (EPM1). Subsequently, mutations in the cystatin B gene have been found in most cases. In the present work we identified an inbred Arab family with a clinical pattern compatible with ULD, but mutations in the cystatin B gene were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.