Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

Abstract	Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.
Authors	Eugénia Pinto, Joel Freitas, Ana Joana Duarte, Isaura Ribeiro, Diogo Ribeiro, J Lopes Lima, João Chaves, Olga Amaral
Journal	Epilepsy research (Epilepsy Res) Vol. 99 Issue 1-2 Pg. 187-90 (Mar 2012) ISSN: 1872-6844 [Electronic] Netherlands
PMID	22154554 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Copyright	Copyright Â© 2011 Elsevier B.V. All rights reserved.
Chemical References	Protein Isoforms Cystatin B
Topics	Adult Cystatin B (genetics) Homozygote Humans Male Mutation Protein Isoforms (genetics) Unverricht-Lundborg Syndrome (diagnosis, genetics)

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